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  • Cited by 1
  • Print publication year: 2011
  • Online publication date: March 2012

Section 2 - Idiopathic epilepsy

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References

Andermann E, (1972) Ph.D. thesis, Montreal, Canada McGill University, Genetics of focal epilepsy and related disorders.
Andermann E, and Metrakos JD (1972) A multifactorial analysis of focal and generalized cortico-reticular (centrencephalic) epilepsy. Epilepsia 13:348–9.
Archer HL, Evans J, Edwards S, et al. (2006) CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 43:729–34.
Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB (2005) A developmental and genetic classification for malformations of cortical development. Neurology 65:1873–87.
Becker AJ, Urbach H, Scheffler B, et al. (2002) Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis. Ann Neurol 52:29–37.
Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM Jr. (2009) Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients. Epilepsia 50:1167–75.
Berg AT, Berkovic SF, Brodie MJ, et al. (2010) Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009. Epilepsia 51:676–85.
Berkovic SF, Howell RA, Hay DA, Hopper JL (1998) Epilepsies in twins: genetics of the major epilepsy syndromes. Ann Neurol 43:435–45.
Berkovic SF, Mulley JC, Scheffer IE, Petrou S (2006) Human epilepsies: interaction of genetic and acquired factors. Trends Neurosci 29:391–7.
Bisulli F, Tinuper P, Avoni P, et al. (2004) Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases. Brain 127:1343–52.
Briellmann RS, Torn-Broers Y, Berkovic SF (2001) Idiopathic generalized epilepsies: do sporadic and familial cases differ? Epilepsia 42:1399–402.
Carter NP (2007) Methods and strategies for analyzing copy number variation using DNA microarrays. Nat Genet 39(7 Suppl):S16–21.
Chen Y, Lu J, Pan H, et al. (2003) Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann Neurol 54:239–43.
Chioza BA, Aicardi J, Aschauer H, et al. (2009) Genome-wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23–p14. Epilepsy Res 87:247–55.
Chioza B, Wilkie H, Nashef L, et al. (2001) Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy. Neurology 56:1245–6.
Commission on Classification and Terminology of the International League Against Epilepsy (1989) Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 30:389–99.
Cotton RG, Auerbach AD, Axton M, et al. (2008) GENETICS: the Human Variome Project. Science 322:861–2.
de Kovel CG, Pinto D, Tauer U, et al. (2010a) Whole-genome linkage scan for epilepsy-related photosensitivity: a mega-analysis. Epilepsy Res 89:286–94.
de Kovel CG, Trucks H, Helbig I, et al. (2010b) Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 133:23–32.
De Vivo DC, Trifiletti RR, Jacobson RI, et al. (1991) Defective glucose transport across the blood–brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 325:703–9.
Depienne C, Bouteiller D, Keren B, et al. (2009) Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet 5:e1000381.
Deprez L, Jansen A, De Jonghe P (2009) Genetics of epilepsy syndromes starting in the first year of life. Neurology 72:273–81.
Dibbens LM, Tarpey PS, Hynes K, et al. (2008) X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet 40:776–81.
Doose H, Gerken H, Horstmann T, Völzke E (1973) Genetic factors in spike–wave absences. Epilepsia 14:57–75.
Du W, Bautista JF, Yang H, et al. (2005) Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Genet 37:733–8.
Durner M, Gorroochurn P, Marini C, Guerrini R (2006) Can we increase the likelihood of success for future association studies in epilepsy? Epilepsia 47:1617–21.
Elia M, Falco M, Ferri R, et al. (2008) CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology 71:997–9.
Engel J (2001) A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of ILAE task force on classification and terminology. Epilepsia 42:796–803.
Engel J Jr. (2006a) Report of the ILAE classification core group. Epilepsia 47:1558–68.
Engel J Jr. (2006b) ILAE classification of epilepsy syndromes. Epilepsy Res 70(Suppl 1):S5–10.
Engel J Jr., Pedley TA (2008) Introduction: What is epilepsy? In: Engel J Jr., Peddey TA (eds.) Epilepsy: A Comprehensive Textbook, 2nd edn, vol. 3. Philadelphia, PA: Lippincott Williams and Wilkins, pp. 1–6.
Engels H, Brockschmidt A, Hoischen A, et al. (2007) DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation. Neurology 68:721–2.
Engelsen BA, Tzoulis C, Karlsen B, et al. (2008) POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 131:818–28.
Everett KV, Chioza B, Aicardi J, et al. (2007) Linkage and association analysis of CACNG3 in childhood absence epilepsy. Eur J Hum Genet 15:463–72.
Falconer DS (1965) The inheritance of liability to certain diseases, estimated from the incidence among relatives. Ann Hum Genet 29:51–76.
Fan Z, Greenwood R, Fisher A, Pendyal S, Powell CM (2009) Characteristics and frequency of seizure disorder in 56 patients with Prader–Willi syndrome. (Letter.) Am J Med Genet 149A:1581–4.
Feucht M, Fuchs K, Pichlbauer E, et al. (1999) Possible association between childhood absence epilepsy and the gene encoding GABRB3. Biol Psychiatry 46:997–1002.
Fong GC, Shah PU, Gee MN, et al. (1998) Childhood absence epilepsy with tonic–clonic seizures and electroencephalogram 3–4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24. Am J Hum Genet 63:1117–29.
Friocourt G, Parnavelas JG (2010) Mutations in ARX result in several defects involving GABAergic neurons. Front Cell Neurosci 4:4.
Gottesman II, Gould TD (2003) The endophenotype concept in psychiatry: etymology and strategic intentions. Am J Psychiatry 160:636–45.
Guerrini R (2010) Classification concepts and terminology: is clinical description assertive and laboratory testing objective? Epilepsia 51:718–20.
Guerrini R, Carrozzo R, Rinaldi R, Bonanni P (2003a) Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms. Paediatr Drugs 5:647–61.
Guerrini R, Casari G, Marini C (2003b) The genetic and molecular basis of epilepsy. Trends Mol Med 9:300−6.
Guerrini R, Moro F, Andermann E, et al. (2003c) Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. Ann Neurol 54:30–7.
Guerrini R, Mei D, Sisodiya S, et al. (2004) Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. Neurology 63:51–6.
Guerrini R, Moro F, Kato M, et al. (2007) Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology 69:427–33.
Guerrini R, Battaglia A, Carrozzo R, et al. (2008a) Chromosomal abnormalities. In: Engel J Jr., Pedley TA (eds.) Epilepsy: A Comprehensive Textbook, 2nd edn, vol. 3. Philadelphia, PA: Lippincott Williams and Wilkins, pp. 2589–601.
Guerrini R, Dobyns WB, Barkovich AJ (2008b) Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options. Trends Neurosci 31:154–62.
Hamdan FF, Piton A, Gauthier J, et al. (2009) De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. Ann Neurol 65:748–53.
Harkin LA, McMahon JM, Iona X, et al. (2007) The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 130:843–52.
Herman ST (2002) Epilepsy after brain insult: targeting epileptogenesis. Neurology 59:S21–6.
Holmes GL (1987) Genetics of epilepsy. In: Holmes GL (ed.) Diagnosis and Management of Seizures in Children Philadelphia, PA: WB Saunders, pp. 56–71.
Jennings MT, Bird TD (1981) Genetic influences in the epilepsies. Am J Dis Child 135:450–7.
Kato M, Saitoh S, Kamei A, et al. (2007) A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression–burst pattern (Ohtahara syndrome). Am J Hum Genet 81:361–6.
Kim HS, Yim SV, Jung KH, et al. (2007) Altered DNA copy number in patients with different seizure disorder type: by array-CGH. Brain Devel 29:639–43.
Kjeldsen MJ, Kyvik KO, Christensen K, Friis ML (2001) Genetic and environmental factors in epilepsy: a population-based study of 11900 Danish twin pairs. Epilepsy Res 44:167–78.
Klepper J, Leiendecker B (2007) GLUT1 deficiency syndrome: 2007 update. Dev Med Child Neurol 49:707–16.
Komura D, Shen F, Ishikawa S, et al. (2006) Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. Genome Res 16:1575–84.
Leary LD, Wang D, Nordli DR Jr., Engelstad K, De Vivo DC (2003) Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome. Epilepsia 44:701–7.
Ledbetter DH (2008) Cytogenetic technology: genotype and phenotype. N Engl J Med 359:1728–30.
Lennox WG (1951) The heredity of epilepsy as told by relatives and twins. J Am Med Ass 146:529–36.
Lennox WG (1960) Epilepsy and Related Disorders, 2 vols. Boston, MA: Little, Brown and Co.
Lennox WG, Jolly DH (1954) Seizures, brain waves and intelligence tests of epileptic twins. Res Publ Ass Res Nerv Ment Dis 33:325–45.
Lowenstein D, Messing R (2007) Epilepsy genetics: yet more exciting news. Ann Neurol 62:549–50.
Lüders HO, Turnbull J, Kaffashi F (2009) Are the dichotomies generalized versus focal epilepsies and idiopathic versus symptomatic epilepsies still valid in modern epileptology? Epilepsia 50:1336–43.
Maljevic S, Krampfl K, Cobilanschi J, et al. (2006) A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. Ann Neurol 59:983–7.
Marini C, Scheffer IE, Crossland KM, et al. (2004) Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families. Epilepsia 45:467–78.
Marini C, Mei D, Helen Cross J, Guerrini R (2006) Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. Epilepsia 47:1737–40.
Marini C, Mei D, Temudo T, et al. (2007) Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. Epilepsia 48:1678–85.
Marini C, Scheffer IE, Nabbout R, et al. (2009) SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia 50:1670–8.
Marini C, Mei D, Parmeggiani L, et al. (2010) Protocadherin 19 mutations in girls with infantile onset epilepsy. Neurology 75:646–53.
Matthes A, Weber H (1968) Klinische und elektroenzephalographische Familienunterschungen bei Pyknolepsien. Dtsch Med Wschr 93:429–35.
Mei D, Marini C, Novara F, et al. (2009) Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia Sep 22. [Epub ahead of print].
Metrakos JD (1961) Heredity as an etiological factor in convulsive disorders. In: Fields WS, Desmond MM (eds.) Disorders of The Developing Nervous System. Springfield, I: Charles C. Thomas, pp. 23–37.
Metrakos JD, Metrakos K (1969) Genetic studies in clinical epilepsy. In: Jasper HH, Ward AA, Pope A (eds.) Basic Mechanisms of the Epilepsies Boston, MA: Little, Brown and Co., pp. 700–8.
Metrakos JD, Metrakos K (1970) Genetic factors in epilepsy. In: Niedermyer E (ed.) Modern Problems in Pharmacopsychiatry, vol. 4 New York: Karger, pp. 71–86.
Metrakos K, Metrakos JD (1974) Genetics of epilepsy. In: Vinken PJ, Bruyn GW (eds.) The Epilepsies: Handbook of Clinical Neurology, vol. 15. Amsterdam: North-Holland, pp. 429–439.
Miller LL, Pellock JM, DeLorenzo RJ, Meyer JM, Corey LA (1998) Univariate genetic analyses of epilepsy and seizures in a population-based twin study: the Virginia Twin Registry. Genet Epidemiol 15:33–49.
Morimoto M, Mazaki E, Nishimura A, et al. (2006) SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy. Epilepsia 47:1732–6.
Mullen SA, Crompton DE, Carney PW, Helbig I, Berkovic SF (2009) A neurologist's guide to genome-wide association studies. Neurology 72:558–65.
Mulley JC, Scheffer IE, Harkin LA, Berkovic SF, Dibbens LM (2005a) Susceptibility genes for complex epilepsy. Hum Mol Genet 14:R243–R249
Mulley JC, Scheffer IE, Petrou S, et al. (2005b) SCN1A mutations and epilepsy. Hum Mutat 25:535–42.
Nabbout R, Gennaro E, Dalla Bernardina B, et al. (2003) Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology 60:1961–7.
Noebels JL (2003) The biology of epilepsy genes. Ann Rev Neurosci 26:599–625.
Ottman R (2005) Analysis of genetically complex epilepsies. (2005) Epilepsia 46(Suppl 10):7–14.
Ottman R, Winawer MR (2008) Genetic epidemiology. In: Engel J Jr. Pedley TA (eds.) Epilepsy: A Comprehensive Textbook, 2nd edn, vol. 3. Philadelphia, PA: Lippincott Williams and Wilkins, pp. 161–70.
Pfeiffer DA, Le JM, Steemers FJ, et al. (2006) High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res 16:1136–48.
Plecko B, Paul K, Paschke E, et al. (2007) Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat 28:19–26.
Risch N, Merikangas K (1996) The future of genetic studies of complex human diseases. Science 273:1516–17.
Robinson R, Taske N, Sander T, et al. (2002) Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q. Epilepsy Res 48:169–79.
Rodin E (2009) The epilepsy diathesis. Epilepsia 50:1649–53.
Roulet-Perez E, Ballhausen D, Bonafé L, Cronel-Ohayon S, Maeder-Ingvar M (2008) Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy. Epilepsia 49:1955–8.
Sadilkova K, Gospe SM Jr., Hahn SH (2009) Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures. J Neurosci Methods 184:136–41.
Saitsu H, Kato M, Mizuguchi T, et al. (2008) De novo mutations in the gene encoding STXBP1 (MUNC18–1) cause early infantile epileptic encephalopathy. Nat Genet 40:782–8.
Sander T, Schulz H, Saar K, et al. (2000) Genome search for susceptibility loci of common idiopathic generalised epilepsies. Hum Mol Genet 9:1465–72.
Schaumann BA, Annegers JF, Johnson SB, et al. (1994) Family history of seizures in posttraumatic and alcohol-associated seizure disorders. Epilepsia 35:48–52.
Scheffer IE, Harkin LA, Grinton BE, et al. (2007) Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain 130:100–9.
Schouten JP, McElgunn CJ, Waaijer R, et al. (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 15:30:e57.
Seidner G, Alvarez MG, Yeh JI, et al. (1998) GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood–brain barrier hexose carrier. Nat Genet 18:188–91.
Shaw-Smith C, Redon R, Rickman L, et al. (2004) Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 41:241–8.
Sicca F, Kelemen A, Genton P, et al. (2003) Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology 28:1042–6.
Singh R, McKinlay Gardner RJ, Crossland KM, Scheffer IE, Berkovic SF (2002) Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters. Epilepsia 43:127−40.
Stromme P, Mangelsdorf ME, Shaw MA, et al. (2002) Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 30:441–5.
Sugimoto Y, Morita R, Amano K, et al. (2000) Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map. Genomics 68:264–72.
Suls A, Dedeken P, Goffin K, et al. (2008) Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 131:1831–44.
Suls A, Mullen SA, Weber YG, et al. (2009) Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol 66:415–19.
Tan NC, Mulley JC, Berkovic SF (2004) Genetic association studies in epilepsy: “the truth is out there”. Epilepsia 45:1429–42.
Tanaka M, Olsen RW, Medina MT, et al. (2008) Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. Am J Hum Genet 82:1249–61.
Tharapel AT, Summitt RL (1978) Minor chromosome variation and selected heteromorphisms in 200 unclassifiable mentally retarded patients and 200 normal controls. Hum Genet 41:121–30.
Uusimaa J, Hinttala R, Rantala H, et al. (2008) Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset alpers syndrome and status epilepticus. Epilepsia 49:1038–45.
Vadlamudi L, Andermann E, Lombroso CT, et al. (2004a): Epilepsy in twins: insights from unique historical data of William Lennox. Neurology 62:1127–33.
Vadlamudi L, Harvey AS, Connellan MM, et al. (2004b) Is benign rolandic epilepsy genetically determined? Ann Neurol 56:129–32.
Vanmolkot KR, Kors EE, Hottenga JJ, et al. (2003) Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann Neurol 54:360–6.
Wallace RH, Marini C, Petrou S, et al. (2001) Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 28:49–52.
Weaving LS, Christodoulou J, Williamson SL, et al. (2004) Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 75:1079–93.
Winawer MR, Marini C, Grinton BE, et al. (2005) Familial clustering of seizure types within the idiopathic generalized epilepsies. Neurology 65:523–8.
Yamamoto T, Páez MT, Shimojima K (2009) Comment on “Altered DNA copy number in patients with different seizure disorder type: by array-CGH” by Kim HS et al. Brain Dev; 29:639–43. Brain Dev 31:94.

References

Annegers JF, Rocca WA, Hauser WA (1996) Causes of epilepsy: contributions of the Rochester epidemiology project. Mayo Clin Proc 71:570–5.
Aridon P, Marini C, Di Resta C, et al. (2006) Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Am J Hum Genet 79:342–50.
Bahi-Buisson N, Nectoux J, Rosas-Vargas H, et al. (2008) Key clinical features to identify girls with CDKL5 mutations. Brain 131:2647–61.
Baulac S, Huberfeld G, Gourfinkel-An I, et al. (2001) First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet 28:46–8
Bisulli F, Tinuper P, Avoni P, et al. (2004) Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases. Brain 127:1343–52.
Chakravarti A (1999) Population genetics: making sense out of sequence. Nat Genet 21(1 Suppl):56–60.
Charlier C, Singh NA, Ryan SG, et al. (1998) A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 18:53–5.
Claes L, Del-Favero J, Ceulemans B, et al. (2001) De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 68:1327–32.
Cossette P, Liu L, Brisebois K, et al. (2002) Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet 31:184–9.
De Fusco M, Becchetti A, Patrignani A, et al. (2000) The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet 26:275–6.
Dibbens LM, Feng HJ, Richards MC, et al. (2004) GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet 13:1315–19.
Dibbens LM, Tarpey PS, Hynes K, et al. (2008) X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet 40:776–81.
Dibbens LM, Mullen S, Helbig I, et al. (2009) Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet 18:3626–31.
Engel J Jr. (2001) A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: Report of the ILAE Task Force on Classification and Terminology. Epilepsia 42:796–803.
Engelsen BA, Tzoulis C, Karlsen B, et al. (2008) POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 131:818–28.
Escayg A, MacDonald BT, Meisler MH, et al. (2000) Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 24:343–5.
Gloyn AL, Diatloff-Zito C, Edghill EL, et al. (2006) KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. Eur J Hum Genet 14:824–30.
Helbig I, Scheffer IE, Mulley JC, Berkovic SF (2008) Navigating the channels and beyond: unravelling the genetics of the epilepsies. Lancet Neurol 7:231–45.
Helbig I, Mefford HC, Sharp AJ, et al. (2009) 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 41:160–2.
Herman ST (2002) Epilepsy after brain insult: targeting epileptogenesis. Neurology 59:S21–S26.
Heron SE, Crossland KM, Andermann E, et al. (2002) Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet 360:851–2.
Heron SE, Khosravani H, Varela D, et al. (2007) Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. Ann Neurol 62:745–9.
Ioannidis JPA (2005) Why most published research findings are false. PLoS Med 2:0696–0701.
Kalachikov S, Evgrafov O, Ross B, et al. (2002) Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet 30:335–41.
Kato M, Das S, Petras K, Sawaishi Y, Dobyns WB (2003) Polyalanine expansion of ARX associated with cryptogenic West syndrome. Neurology 61:267–76.
Kato M, Saitoh S, Kamei A, et al. (2007) A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression–burst pattern (Ohtahara syndrome). Am J Hum Genet 81:361–6.
Kjeldsen MJ, Kyvik KO, Christensen K, Friis ML (2001) Genetic and environmental factors in epilepsy: a population-based study of 11 900 Danish twin pairs. Epilepsy Res 44:167–78.
Kleefuss-Lie A, Friedl W, Cichon S, et al. (2009) CLCN2 variants in idiopathic generalized epilepsy. Nat Genet 41:954–5.
Kruglyak L, Nickerson DA (2001) Variation is the spice of life. Nat Genet 27:234–6.
Maljevic S, Krampfl K, Cobilanschi J, et al. (2006) A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. Ann Neurol 59:983–7.
Medina ST, Suzuki T, Alonso ME, et al. (2008) Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy. Neurology 70:2137–44.
Miller LL, Pellock JM, DeLorenzo RJ, Meyer JM, Corey LA (1998) Univariate genetic analyses of epilepsy and seizures in a population-based twin study: the Virginia Twin Registry. Genet Epidemiol 15:33–49.
Pritchard JK (2001) Are rare variants responsible for susceptibility to complex disease? Am J Hum Genet 69:124–37.
Proks P, Arnold AL, Bruining J, et al. (2006) A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum Mol Genet 15:1793–800.
Saint-Martin C, Gauvain G, Teodorescu G, et al. (2009) Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. Hum Mutat 30:397–405.
Saitsu H, Kato M, Mizuguchi T, et al. (2008) De novo mutations in the gene encoding STXBP1 (MUNC18–1) cause early infantile epileptic encephalopathy. Nat Genet 40:782–8.
Sawcer S (2008) The complex genetics of multiple sclerosis: pitfalls and prospects. Brain 131:3118–31.
Sillanpää M, Koskenvuo M, Romanov K, Kaprio J (1991) Genetic factors in epileptic seizures: evidence from a large twin population. Acta Neurol Scand 84:523–6.
Singh B, Ogiwara I, Kaneda M, et al. (2006) A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy. Neurobiol Dis 24:245–53.
Singh NA, Charlier C, Stauffer D, et al. (1998) A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 18:25–9.
Steinlein OK, Mulley JC, Propping P, et al. (1995) A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 11:201–3.
Stogmann E, Lichtner P, Baumgartner C, et al. (2006) Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. Neurology 67:2029–31.
Suls A, Mullen SA, Weber YG, et al. (2009) Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol 66:415–19.
Suzuki T, Delgado-Escueta AV, Aguan K, et al. (2004) Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet 36:842–9.
Uusimaa J, Hinttala R, Rantala H, et al. (2008) Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. Epilepsia 49:1038–45.
Vanmolkot KR, Kors EE, Hottenga JJ, et al. (2003) Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann Neurol 54:360–6.
Wallace RH, Wang DW, Singh R, et al. (1998) Febrile seizures and generalized epilepsy associated with a mutation Na+-channel beta1 subunit gene SCN1B. Nat Genet 19:366–70.
Wallace RH, Marini C, Petrou S, et al. (2001) Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 28:49–52.
Yang Q, Khoury MJ, Friedman JM, Little J, Flanders WD (2005). How many genes underlie the occurrence of common complex diseases in the population? Int J Epidemiol 34:1129–37.
Zuberi SM, Eunson LH, Spauschus A, et al. (1999) A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain 122:817–25.

References

Bye AME (1994) Neonate with benign familial neonatal convulsions: recorded generalized and focal seizures. Ped Neurol 10:164–5.
Commission on Classification and Terminology of the ILAE (1989) Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 30:389–699.
de Haan GJ, Pinto D, Carton D, et al. (2006) A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years. Epilepsia 47:851–9.
Heron SE, Cox K, Grinton BE, et al. (2007) Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. J Med Genet 44:791–6.
Hirsch E, Velez A, Sellal F, et al. (1993) Electroclinical signs of benign neonatal familial convulsions. Ann Neurol 134:835–41.
Kanaumi T, Takashima S, Iwasaki H, et al. (2008) Developmental changes in KCNQ2 and KCNQ3 expression in human brain: possible contribution to the age-dependent etiology of benign familial neonatal convulsions. Brain Dev 30:362–9.
Kullmann DM (2008) Benign neonatal convulsions and spontaneous network activity in the developing brain: is there a link? J Physiol 15:52–81.
Leppert M, Anderson VE, Quattlebaum T, et al. (1989) Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature 337:647–8.
Lewis TB, Leach RJ, Ward K (1993) Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. Am J Hum Gen 53:670–5.
Li H, Li N, Shen L, et al. (2008) A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions. Epilepsy Res 79:1–5.
Maihara T, Tsuji M, Higuchi Y, Hattori H (1999) Benign familial neonatal convulsions followed by benign epilepsy with centro-temporal spikes in two siblings. Epilepsia 40:110–13.
Plouin P, Anderson VE (2005) Benign familial and non-familial neonatal seizures. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P (eds.) Epileptic Syndromes in Infancy, Childhood and Adolescence. Montrouge, France: John Libbey Eurotext, pp. 3–15.
Quattelbaum TG (1979) Benign familial convulsions in the neonatal period and early infancy. J Pediat 95:257–9.
Rett AR, Teubel R (1964) Neugeborenenkrämpfe im Rahmen einer epileptisch belasten Familie. Wien Klin Wschr 76:609–13.
Ronen GM, Rosales TO, Connolly ME, Anderson VE, Leppert M (1993) Seizure characteristics in chromosome 20 benign familial neonatal convulsions. Neurology 43:1355–60.
Ronen GM, Penney S, Andrews W (1999) The epidemiology of clinical neonatal seizures in Newfoundland: a population-based study. J Pediat 134:71–5.
Ryan SG, Wiznitzer M, Hollman C, et al. (1991) Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity. Ann Neurol 29:469–73.
Steinlein O, Schuster V, Fischer C, Häussler M (1995) Benign familial neonatal convulsions: confirmation of genetic heterogeneity and further evidence for a second locus on chromosome 8q. Hum Genet 95:411–15.
Steinlein OK, Conrad C, Weidner B (2007) Benign familial neonatal convulsions: always benign? Epilepsy Res 73:245–9.
Wickenden AD, Yu W, Zou A, Jegla T, Wagoner PK (2000) Retigabine, a novel anticonvulsant, enhances activation of KCNQ2/Q3 potassium channels. Molec Pharm 58:591–600.
Yalçin O, Cağlayan SH, Saltik S, et al. (2007) A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC). Turk J Pediatr 49:385–9.

References

Aridon P, Marini C, Di Resta C, et al. (2006) Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Am J Hum Genet 79:342–50.
Bertrand D, Elmslie F, Hughes E, et al. (2005) The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits. Neurobiol Dis 20:799–804.
Bertrand D, Picard F, Le Hellard S, et al. (2002) How mutations in the nAChRs can cause ADNFLE epilepsy. Epilepsia 43(Suppl 5):112–22.
Brodtkorb E, Picard F (2006) Tobacco habits modulate autosomal dominant nocturnal frontal lobe epilepsy. Epilepsy Behav 9:515–20.
Cho YW, Motamedi GK, Laufenberg I, et al. (2003) A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. Arch Neurol 60:1625–32.
De Fusco M, Becchetti A, Patrignani A, et al. (2000) The nicotinic receptor beta2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet 26:275–6.
De Marco EV, Gambardella A, Annesi F, et al. (2007) Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy. Epilepsy Res 74:70–3.
Derry CP, Duncan JS, Berkovic SF (2006) Paroxysmal motor disorders of sleep: the clinical spectrum and differentiation from epilepsy. Epilepsia 47:1775–91.
Derry CP, Heron SE, Phillips F, et al. (2008) Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability. Epilepsia 49:2125–9.
Khatami R, Neumann M, Schulz H, Kolmel HW (1998) A family with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. J Neurol 245:809–10.
Lugaresi E, Cirignotta F, Montagna P (1986) Nocturnal paroxysmal dystonia. J Neurol Neurosurg Psychiatry 49:375–80.
Montagna P, Sforza E, Tinuper P, Cirignotta F, Lugaresi E (1990) Paroxysmal arousals during sleep. Neurology 40:1063–6.
Nobili L, Francione S, Mai R, et al. (2007) Surgical treatment of drug-resistant nocturnal frontal lobe epilepsy. Brain 130:561–73.
Pedley TA, Guilleminault C (1977) Episodic nocturnal wandering responsive to anticonvulsant drug therapy. Ann Neurol 2:30–5.
Phillips HA, Scheffer IE, Berkovic SF, et al. (1995) Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2. Nat Genet 10:117–18.
Phillips HA, Scheffer IE, Crossland KM, et al. (1998) Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am J Hum Genet 63:1108–16.
Phillips HA, Marini C, Scheffer IE, et al. (2000) A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann Neurol 48:264–7.
Phillips HA, Favre I, Kirkpatric M, et al. (2001) CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant frontal lobe epilepsy. Am J Hum Genet 68:225–31.
Picard F, Bruel D, Servent D, et al. (2006) Alteration of the in vivo nicotinic receptor density in ADNFLE patients: a PET study. Brain 129:2047–60.
Picard F, Scheffer IE (2005). Recently defined genetic epilepsy syndromes. In: Roger JBM, Dravet C, Genton P, Tassinari CA, Wolf P (eds.) Epileptic Syndromes in Infancy, Childhood and Adolescence, Mountrouge, France: John Libbey Eurotext, pp. 519–35
Plazzi G, Tinuper P, Montagna P, Lugaresi E (1995) Epileptic nocturnal wanderings. Sleep 18:749–56.
Provini F, Plazzi G, Tinuper P, et al. (1999) Nocturnal frontal lobe epilepsy: a clinical and polygraphic overview of 100 consecutive cases. Brain 122:1017–31.
Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. (1994) Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet 343:515–17.
Sforza E, Montagna P, Rinaldi R, et al. (1993) Paroxysmal periodic motor attacks during sleep: clinical and polygraphic features. Electroencephalogr Clin Neurophysiol 3:67–73.
Steinlein OK, Mulley JC, Propping P, et al. (1995) A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 11:201–3.
Tinuper P, Cerullo A, Cirignotta F, et al. (1990) Nocturnal paroxysmal dystonia with short-lasting attacks: three cases with evidence for an epileptic frontal lobe origin of seizures. Epilepsia 31:549–56.
Tinuper P, Lugaresi E, Vigevano F, Berkovich SF (2002) Nocturnal frontal lobe epilepsy. In: Guerrini R, Aicardi J, Andermann F, Hallett M (eds.) Epilepsy and Movement Disorders in Children. Cambridge: Cambridge University Press, pp. 97–110.
Tinuper P, Provini F, Bisulli F, Lugaresi E (2005) Hyperkinetic manifestations in nocturnal frontal lobe epilepsy: semiological features and physiopathological hypothesis. Neurol Sci (Suppl)3:210–4.
Tinuper P, Provini F, Bisulli F, et al. (2007) Movement disorders in sleep: guidelines for differentiating epileptic from non-epileptic motor phenomena arising from sleep. Sleep Med Rev 11:255–67.
Vignatelli L, Bisulli F, Provini F, et al. (2007) Interobserver reliability of video recording in the diagnosis of nocturnal frontal lobe seizures. Epilepsia 48:1506–11.
Willoughby JO, Pope KJ, Eaton V (2003) Nicotine as an antiepileptic agent in ADNFLE: an N-of-one study. Epilepsia 44:1238–40.

References

Abou-Khalil B, Ge Q, Desai R, et al. (2001) Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology 57:2265–72.
Audenaert D, Claes L, Ceulemans B, et al. (2003) A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. Neurology 61:854–6.
Baulac S, Huberfeld G, Gourfinkel-An I, et al. (2001) First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet 28:46–8.
Dibbens LM, Feng HJ, Richards MC, et al. (2004) GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet 13:1315–19.
Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O (2005) Severe myoclonic epilepsy in infancy (Dravet syndrome). In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P (eds.) Epileptic Syndromes in Infancy, Childhood and Adolescence, 4th edn. Montrouge, France: John Libbey Eurotext, pp. 89–113.
Escayg A, MacDonald BT, Meisler MH, et al. (2000) Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 24:343–5.
Guerrini R, Dravet C, Genton P, et al. (1998) Lamotrigine and seizure aggravation in severe myoclonic epilepsy. Epilepsia 39(Suppl):508–12.
Guerrini R, Parmeggiani L, Bonanni P, Kaminska A, Dulac O (2005) Myoclonic astatic epilepsy. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P (eds.) Epileptic Syndromes in Infancy, Childhood and Adolescence, 4th edn. Montrouge, France: John Libbey Eurotext, pp. 115–24.
Harkin LA, Bowser DN, Dibbens LM, et al. (2002) Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet 70:530–6.
Harkin LA, McMahon JM, Iona X, et al. (2007) The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 130:843–52.
Ito M, Nagafuji H, Okazawa H, et al. (2002) Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A. Epilepsy Res 48:15–23.
Lossin C, Wang DW, Rhodes TH, Vanoye CG, George AL Jr. (2002) Molecular basis of an inherited epilepsy. Neuron 34:877–84.
Lossin C, Rhodes TH, Desai RR, et al. (2003) Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. J Neurosci 23:11 289–95.
Mullen SA, Scheffer IE (2009) Translational research in epilepsy genetics: sodium channels in man to interneuronopathy in mouse. Arch Neurol 66:21–6.
Oguni H, Hayashi K, Imai K, et al. (2005) Idiopathic myoclonic–astatic epilepsy of early childhood: nosology based on electrophysiologic and long-term follow-up study of patients. Adv Neurol 95:157–74.
Scheffer IE, Berkovic SF (1997) Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain 120:479–90.
Scheffer IE, Harkin LA, Grinton BE, et al. (2007) Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain 130:100–9.
Scheffer IE, Zhang YH, Jansen FE, Dibbens L (2009) Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? Brain Dev 31:394–400.
Singh R, Scheffer IE, Crossland K, Berkovic SF (1999a) Generalized epilepsy with febrile seizures plus: a common, childhood onset, genetic epilepsy syndrome. Ann Neurol 45:75–81.
Singh R, Scheffer IE, Whitehouse W, et al. (1999b) Severe myoclonic epilepsy of infancy is part of the spectrum of generalized epilepsy with febrile seizures plus (GEFS+). Epilepsia 40:175.
Singh R, Andermann E, Whitehouse WPA, et al. (2001) Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? Epilepsia 42:837–44.
Wallace RH, Wang DW, Singh R, et al. (1998) Febrile seizures and generalized epilepsy associated with a mutation in the Na+ channel beta1 subunit gene SCN1B. Nat Genet 19:366–70.
Wallace RH, Marini C, Petrou S, et al. (2001a) Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 28:49–52.
Wallace RH, Scheffer IE, Barnett S, et al. (2001b) Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet 68:859–65.

References

Aicardi J (1994) Epilepsy in Children. New York: Raven Press.
Caraballo R, Tripoli J, Escobal L, et al. (1998) Ketogenic diet: efficacy and tolerability in childhood intractable epilepsy. Rev Neurol 26:61–4.
Chiron C, Marchand MC, Tran A, et al. (2000) Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. STICLO study group. Lancet 356:1638–42.
Claes L, Del-Favero J, Ceulemans B, et al. (2001) De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 68:1327–32.
Depienne C, Arzimanoglou A, Trouillard O, et al. (2006) Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. Hum Mutat 27:389.
Depienne C, Bouteiller D, Keren B, et al. (2009) Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet 5(2):e1000381.
Depienne C, Trouillard O, Gourfinkel-An I et al. (2010) Mechanisms for variable expressivity of inherited SCNIA mutations causing Dravet Syndrome. J Med Genet 47:404–10.
Dibbens LM, Tarpey PS, Hynes K, et al. (2008) X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet 40:776–81.
Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O (2005) Severe myoclonic epilepsy in infancy (Dravet syndrome). In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P (eds.) Epileptic Syndromes in Infancy, Childhood and Adolescence, 4th edn. Montronge, France: John Libbey Eurotext, pp. 89–113.
Engel J Jr. (2001) A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: Report of the ILAE Task Force on Classification and Terminology. Epilepsia 42:796–803.
Escayg A, MacDonald BT, Meisler MH, et al. (2000) Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 24:343–5.
Fujiwara T, Nakamura H, Watanabe M, et al. (1990) Clinicoelectrographic concordance between monozygotic twins with severe myoclonic epilepsy in infancy. Epilepsia 31:281–6.
Fujiwara T, Sugawara T, Mazaki-Miyazaki E, et al. (2003) Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic–clonic seizures. Brain 126:531–46.
Gennaro E, Santovelli FM, Bertini E, et al. (2006) Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. Biochem Biophys Res Commun 341:489–93.
Guerrini R, Dravet C, Genton P, et al. (1998) Lamotrigine and seizure aggravation in severe myoclonic epilepsy. Epilepsia 39(Suppl):508–12.
Harkin LA, Bowser DN, Dibbens LM, et al. (2002) Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet 70:530–6.
Harkin L, McMahon JM, Iona X, et al. (2007) The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 130:843–52.
Hurst DL (1990) Epidemiology of severe myoclonic epilepsy of infancy. Epilepsia 31:397–400.
Jansen FE, Sadleir LG, Harkin LA, et al. (2006) Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. Neurology 67:2224–6.
Marini C, Mei D, Cross HJ, Guerrini R (2006) Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. Epilepsia 47:1737–40.
Marini C, Mei D, Temudo T, et al. (2007) Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. Epilepsia 48:1678–85.
Marini C, Scheffer IE, Nabbout R, et al. (2009) SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia [Epub ahead of print].
Meisler MH, Kearney JA (2005) Sodium channel mutations in epilepsy and other neurological disorders. J Clin Invest 115:2010–17.
Morimoto M, Mazaki E, Nishimura A, et al. (2006) SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy. Epilepsia 47:1732–36.
Mulley JC, Scheffer IE, Petrou S, et al. (2005) SCN1A mutations and epilepsy. Hum Mutat 25:535–42.
Nabbout R, Gennaro E, Dalla Bernardina B, et al. (2003) Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology 60:1961–7.
Oguni H, Hayashi K, Awaya Y, Fukuyama Y, Osawa M (2001) Severe myoclonic epilepsy in infants: a review based on the Tokyo Women's Medical University series of 84 cases. Brain Dev 23:736–48.
Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K (2002) Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun 295:17–23.
Scheffer IE, Berkovic SF (1997) Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain 120:479–90.
Siegler Z, Barsi P, Neuwirth M, et al. (2005) Hippocampal sclerosis in severe myoclonic epilepsy in infancy: a retrospective MRI study. Epilepsia 46:704–8.
Singh R, Andermann F, Whitehouse WP, et al. (2001) Severe myoclonic epilepsy of infancy: extended spectrum of (GEFS+). Epilepsia 42:837–44.
Striano P, Mancardi MM, Biancheri R, et al. (2007) Brain MRI findings in severe myoclonic epilepsy in infancy and genotype–phenotype correlations. Epilepsia 48:1092–6.
Sugawara T, Mazaki-Miyazaki E, Fukushima K, et al. (2002) Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology 58:1122–4.
Wallace RH, Hodgson BL, Grinton BE, et al. (2003) Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology 61:765–9.
Wolff M, Cassé-Perrot C, Dravet C (2006) Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings. Epilepsia 47(Suppl 2):45–8.
Yakoub M, Dulac O, Jambaqué I, Chiron C, Plouin P (1992) Early diagnosis of severe myoclonic epilepsy in infancy. Brain Dev 14:299–303.

References

Araki T (2002) Clinical genetic and linkage analysis of familial essential myoclonus and epilepsy (FEME). Niigata Med J 116:535–45.
De Falco FA, Striano P, de Falco A, et al. (2003) Benign adult familial myoclonic epilepsy: genetic heterogeneity and allelism with ADCME. Neurology 60:1381–5.
Elia M, Musumeci SA, Ferri R, et al. (1998) Familial cortical tremor, epilepsy, and mental retardation: a distinct clinical entity? Arch Neurol 55:1569–73.
Guerrini R, Bonanni P, Patrignani A, et al. (2001) Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: a newly recognized epilepsy syndrome with linkage to chromosome 2p11.1–q12.2. Brain 124:2459–75.
Ikeda A, Kakigi R, Funai N, et al. (1990) Cortical tremor: a variant of cortical reflex myoclonus. Neurology 40:1561–5.
Inazuki H, Naito A, Ohama E (1990) A clinical study and neuropathological findings of a familial disease with myoclonus and epilepsy. Seishin Shinkeigaku Zashi 92:1–21.
Inoue S (1975) Hereditary epilepsy with epilepsy-like seizure. Seishin Shinkeigaku Zashi 77:1–18.
Madia F, Striano P, Di Bonaventura C, et al. (2008) Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1–q12.2 in five Italian families. Neurogenetics 9:139–42.
Mikami M, Yasuda T, Terao A, et al. (1999) Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3–q24.1. Am J Hum Genet 65:745–51.
Okino S (1997) Familial benign myoclonus epilepsy of adult onset: a previously unrecognized myoclonic disorder. J Neurol Sci 145:113–18.
Plaster NM, Uyama E, Uchino M, et al. (1999) Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24. Neurology 53:1180–3.
Takahashi T, Aoki K, Wada T (1969) Three families of familial tremor with grand mal seizure. Clin Neurol 12:729.
Wakeno M (1975) A family with heredofamilial tremor associated epileptic disorders. Psychiatr Neurol Jpn 77:1–18.
Yasuda T (1991) Benign adult familial myoclonic epilepsy. Kawasaki Med J 17:1–13.

References

Andermann F (1967) Absence attacks and diffuse neuronal disease. Neurology 17:205–12.
Annegers JF, Hauser WA, Elveback LR, Anderson VE, Kurland LT (1976) Seizure disorders in offspring of parents with a history of seizures: a maternal–paternal difference? Epilepsia 17:1–9.
Annegers JF, Hauser WA, Anderson VE, Kurland LT (1982) The risks of seizure disorders among relatives of patients with childhood onset epilepsy. Neurology 32:174–9.
Appleton RE, Panayiotopoulos CP, Acomb BA, Beirne M (1993) Eyelid myoclonia with typical absences: an epilepsy syndrome. J Neurol Neurosurg Psychiatry 56:1312–16.
Appleton R, Beirne M, Acomb B (2000) Photosensitivity in juvenile myoclonic epilepsy. Seizure 9:108–11.
Asconape J, Penry JK (1984) Some clinical and EEG aspects of benign juvenile myoclonic epilepsy. Epilepsia 25:108–14.
Baruzzi A, Procaccianti G, Tinuper P, et al. (1988) Antiepileptic drug withdrawal in childhood epilepsies: preliminary results of a prospective study. In: Faienza C, Prati GL. (eds.) Diagnostic and Therapeutic Problems in Pediatric Epileptology. Amsterdam: Elsevier Science, pp. 117–23.
Berg AT, Shinnar S, Levy SR, et al. (2000) How well can epilepsy syndromes be identified at diagnosis? A reassessment two years after initial diagnosis. Epilepsia 41:1267–75.
Berkovic S (1996) Childhood absence epilepsy and juvenile absence epilepsy. In: Wyllie E (ed.) The Treatment of Epilepsy: Principles and Practice. Baltimore, MD: Williams and Wilkins, pp. 461–6.
Berkovic SF, Scheffer IE (2001) Genetics of the epilepsies. Epilepsia 42(Suppl 5):16–23.
Berkovic SF, Reutens DC, Andermann E, Andermann F (1994) The epilepsies: specific syndromes or a neurobiological continuum? In: Wolf P (ed.) Epileptic Seizures and Syndromes. Montrouge, France: John Libbey Eurotext, pp. 25–37.
Berkovic SF, Howell RA, Hay DA, Hopper JL (1998) Epilepsies in twins: genetics of the major epilepsy syndromes. Ann Neurol 43:435–45.
Bing F, Dananchet Y, Vercueil L (2005) A family with exercise-induced paroxysmal dystonia and childhood absence epilepsy. Rev Neurol 161:817–22.
Binnie CD, Darby CE, De Korte RA, Wilkins AJ (1980) Self-induction of epileptic seizures by eyeclosure: incidence and recognition. J Neurol Neurosurg Psychiatry 43:386–9.
Bureau M, Tassinari CA (2005) The syndrome of myoclonic absences. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P (eds.) Epileptic Syndromes in Infancy, Childhood and Adolescence, 4th edn. Montrouge, France: John Libbey Eurotext, pp. 337–44.
Camfield C, Camfield P (2005) Management guidelines for children with idiopathic generalized epilepsy. Epilepsia 46(Suppl 9):112–16.
Camfield P, Camfield C (2002) Epileptic syndromes in childhood: clinical features, outcomes, and treatment. Epilepsia 43(Suppl 3):27–32.
Caraballo R, Cersosimo R, Medina C, Fejerman N (2000) Panayiotopoulos-type benign childhood occipital epilepsy: a prospective study. Neurology 55:1096–100.
Cavazzuti GB (1980) Epidemiology of different types of epilepsy in school age children of Modena, Italy. Epilepsia 21:57–62.
Cossette P, Liu L, Brisebois K, et al. (2002) Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet 31:184–9.
Delgado-Escueta AV, Serratosa JM, Medina MT (1996) Juvenile myoclonic epilepsy. In: Wyllie E (ed.) The Treatment of Epilepsy: Principles and Practice. Baltimore, MD: Williams and Wilkins, pp. 484–501.
Doose H, Baier WK (1989) Absences. In: al B-Me (ed.) Genetics of the Epilepsies. Berlin: Spinger-Verlag, pp. 34–42.
Doose H, Volzke E, Scheffner D (1965) Verlaufsformen kindlicher epilepsien mit spike-wave-absencen. Arch Psychiatr Nervenkrh 207:394–15.
Dravet C, Bureau M (2002) Benign myoclonic epilepsy in infancy. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P (eds.) Epileptic Syndromes in Infancy, Childhood and Adolescence 3rd edn. Montrouge, France: John Libbey Eurotext, pp. 69–79.
Durner M, Keddache MA, Tomasini L, et al. (2001) Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type. Ann Neurol 49:328–35.
Engel J Jr. (2001) A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on classification and terminology. Epilepsia, 42:796–803.
Forsgren L (2004) Incidence and prevalence. In: Wallace SJ, Farrel K (eds.) Epilepsy in Children. London: Arnold, pp. 21–5.
Gastaut H (1981) Individualisation des epilepsies dites “benignes” ou “fonctionnelles” aux differents ages de la vie. Appreciation des variations correspondantes de la predisposition epileptique a ces ages. Rev EEG Neurophysiol 11:346–66.
Gelisse P, Genton P, Thomas P, Rey M, Samuelian JC, Dravet C (2001) Clinical factors of drug resistance in juvenile myoclonic epilepsy. J Neurol Neurosurg Psychiatry 70:240–3.
Gilliam F, Steinhoff BJ, Bitterman HJ, et al. (2000) Adult myoclonic epilepsy: a distinct syndrome of idiopathic generalized epilepsy. Neurology 55:1030–3.
Greenberg DA, Delgado-Escueta AV, Maldonado HM, Widelitz H (1989) Segregation analysis of juvenile myoclonic epilepsy. In: Beck-Mannagetta G, Anderson VE, Doose H, Janz D (eds.) Genetics of the Epilepsies. Berlin: Springer-Verlag, pp. 53–61.
Grosso S, Galimberti D, Vezzosi P, et al. (2005) Childhood absence epilepsy: evolution and prognostic factors. Epilepsia 46:1796–801.
Guerrini R (2006) Epilepsy in children. Lancet 367:499–524.
Guerrini R, Bonanni P, Patrignani A, et al. (2001) Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: a newly recognized epilepsy syndrome with linkage to chromosome 2p11.1–q12.2. Brain 124:2459–75.
Guerrini R, Sanchez-Carpintero, Deonna R, et al. (2002) Early-onset absence epilepsy and paroxysmal dyskinesia. Epilepsia 43:1224–9.
Guerrini R, Bonanni P, Parmeggiani L, Hallett M, Oguni H (2005) Pathophysiology of myoclonic epilepsies. Adv Neurol 95:23–46.
Guiwer J, Valenti MP, Bourazza A, et al. (2003) Prognosis of idiopathic absence epilepsies. In: Jallon P, Berg A, Dulac O, Hauser A (eds.) Prognosis of Epilepsies. Montrouge, France: John Libbey Eurotext, pp. 249–57.
Hauser WA, Annegers JF, Kurland LT (1993) Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: 1935–1984. Epilepsia 34:453–68.
Hedstrom A, Olsson I (1991) Epidemiology of absence epilepsy: EEG findings and their predictive value. Pediatr Neurol 7:100–4.
Helbig I, Scheffer IE, Mulley JC, Berkovic SF (2008) Navigating the channels and beyond: unravelling the genetics of the epilepsies. Lancet Neurol 7:231–45.
Hempelmann A, Taylor KP, Heils A, et al. (2006) Exploration of the genetic architecture of idiopathic generalized epilepsies. Epilepsia 47:1682–90.
Herpin T (1867) Des Accès incomplets de l'épilepsies. Paris, France: J Ballière et Fils.
Holmes GL, McKeever M, Adamson M (1987) Absence seizures in children: clinical and electroencephalographic features. Ann Neurol 21:268–73.
ILAE Commission on Classification and Terminology (1989) Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 30:389–99.
Janz D (1985) Epilepsy with impulsive petit mal (juvenile myoclonic epilepsy). Acta Neurol Scand 72:449–59.
Janz D, Christian W (1957) Impulsive-petit mal. J Neurol 176:346–86.
Janz D, Beck-Mannagetta G, Sander T (1992) Do idiopathic generalized epilepsies share a common susceptibility gene? Neurology 42(Suppl 5):48–55.
Jeavons PM (1977) Nosological problems of myoclonic epilepsies in childhood and adolescence. Dev Med Child Neurol 19:3–8.
Lennox WG (1960) Epilepsy and Related Disorders. Boston, MA: Little, Brown.
Loiseau P (1992) Childhood absence epilepsy. In: Roger J, Bureau M, Dravet C, Dreifuss FE, Perret A, Wolf P (eds.) Epileptic Syndromes in Infancy, Childhood and Adolescence 2nd edn. Montrouge, France: John Libbey Eurotext, pp. 135–50.
Loiseau P, Panayiotopoulos CP (2005) Childhood Absence Epilepsy. Available online at www.ilae-epilepsy.org/Visitors/Centre/ctf.
Lugaresi E, Pazzaglia P, Franck L, et al. (1973) Evolution and prognosis of primary generalised epilepsy of the petit mal type. In: Lugaresi E, Pazzaglia P, Tassinari CA (eds.) Evolution and Prognosis of Epilepsy. Bologna: Aulo Gaggi, pp. 106–20.
Marinas A, Villanueva V, Giraldez BG, et al. (2009) Efficacy and tolerability of zonisamide in idiopathic generalized epilepsy. Epilept Disord 11:61–6.
Marini C, Harkin LA, Wallace RH, et al. (2003a) Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation. Brain 126:230–40.
Marini C, King MA, Archer JS, et al. (2003b) Idiopathic generalised epilepsy of adult onset: clinical syndromes and genetics. J Neurol Neurosurg Psychiatry 74:192–6.
Marini C, Scheffer IE, Crossland KM, et al. (2004) Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families. Epilepsia 45:467–78.
Marini C, Parmeggiani L, Masi G, D'Arcangelo G, Guerrini R (2005) Nonconvulsive status epilepticus precipitated by carbamazepine presenting as dissociative and affective disorders in adolescents. J Child Neurol 20:693–6.
Mayville C, Fakhoury T, Abou-Khalil B (2000) Absence seizures with evolution into generalised tonic–clonic activity: clinical and EEG features. Epilepsia 41:391–4.
Meencke HJ, Janz D (1984) Neuropathological findings in primary generalized epilepsy: a study of eight cases. Epilepsia 25:8–21.
Mikami M, Yasuda T, Terao A, et al. (1999) Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3–q24.1. Am J Hum Genet 65:745–51.
Noachtar S, Andermann E, Meyvisch P, et al. (2008) Levetiracetam for the treatment of idiopathic generalized epilepsy with myoclonic seizures. Neurology 70:607–16.
Obeid T (1994) Clinical and genetic aspects of juvenile absence epilepsy. J Neurol 241:487–91.
Okino S (1997) Familial benign myoclonus epilepsy of adult onset: a previously unrecognized myoclonic disorder. J Neurol Sci 145:113–18.
Opeskin K, Kalnins RM, Halliday G, Cartwright H, Berkovic SF (2000) Idiopathic generalised epilepsy: lack of significant microdysgenesis. Neurology 55:1101–06.
Ottman R, Annegers JF, Hauser WA, Kurland LT (1988) Higher risk of seizures in offspring of mothers than of fathers with epilepsy. Am J Hum Genet 43:257–64.
Panayiotopoulos CP, Obeid T (1989) Juvenile myoclonic epilepsy: an autosomal recessive disease. Ann Neurol 25:440–3.
Panayiotopoulos CP, Ferrie CD, Giannakodimos S, Robinson RO (1995) Perioral myoclonia with absences. In: Duncan JS, Panayiotopoulos CP (eds.) Typical Absences and Related Epileptic Syndromes. London: Churchill Communications, pp. 221–30.
Penry JK, Porter RJ, Dreifuss FE (1975) Simultaneous recording of absence seizures with video tape and electroencephalography: a study of 374 seizures in 48 patients. Brain 98:427–40.
Reutens DC, Berkovic SF (1995) Idiopathic generalized epilepsy of adolescence: are the syndromes clinically distinct? Neurology 45:1469–76.
Ricci S, Cusmai R, Fusco L, Vigevano F (1995) Reflex myoclonic epilepsy in infancy: a new age-dependent idiopathic epileptic syndrome related to startle reaction. Epilepsia 36:342–8.
Rocca WA, Sharbrough FW, Hauser WA, Annegers JF, Schoenberg BS (1987) Risk factors for generalized tonic-clonic seizures: a population-based case-control study in Rochester, Minnesota. Neurology 37:1315–22.
Rossi PG, Parmeggiani A, Posar A, Santi A, Santucci M (1997) Benign myoclonic epilepsy: long-term follow-up of 11 new cases. Brain Dev 19:473–9.
Sadleir LG, Scheffer IE, Smith S, et al. (2009) EEG features of absence seizures in idiopathic generalized epilepsy: impact of syndrome, age, and state. Epilepsia 50:1572–8.
Sander T, Schulz H, Saar K, et al. (2000) Genome search for susceptibility loci of common idiopathic generalised epilepsies. Hum Mol Genet 9:1465–72.
Sarisjulis N, Gamboni B, Plouin P, Kaminska A, Dulac O (2000) Diagnosing idiopathic/cryptogenic epilepsy syndromes in infancy. Arch Dis Child 82:226–30.
Sato S, Dreifuss FE, Penry JK, Kirby DD, Palesch Y (1983) Long-term follow-up of absence seizures. Neurology 33:1590–5.
Sauer H (1916) Über gehaufte kleine Anfalle hei Kindern (Pyknolepsie). Mschr Psychiatr Neurol 1916:40.
Scherman RG, Abraham, K (1963) “Centrencephalic” electroencephalographic pattern in precocious puberty. Electroencephalogr Clin Neurophysiol 15:559–67.
Suls A, Dedeken P, Goffin K, et al. (2008) Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 131:1831–44.
Temkin O (1971) The Falling Sickness. Baltimore, MD: Johns Hopkins University Press.
Thomas P, Genton P, Gelisse P, Wolf P (2002) Juvenile myoclonic epilepsy. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P (eds.) Epileptic Syndromes in Infancy, Childhood and Adolescence, 3rd edn. Montrouge, France: John Libbey Eurotext, pp. 335–56.
Thomas P, Valton L, Genton P (2006) Absence and myoclonic status epilepticus precipitated by antiepileptic drugs in idiopathic generalized epilepsy. Brain 129:1281–92.
Trinka E, Baumgartner S, Unterberger I, et al. (2004) Long-term prognosis for childhood and juvenile absence epilepsy. J Neurol 251:1235–41.
Tsuboi T (1989) Genetic risk in offspring of epileptic patients. In: Beck-Mannagetta G, Anderson VE, Doose H, Janz D (eds.) Genetics of Epilepsies. Berlin: Springer-Verlag, pp. 111–18.
Unterberger I, Trinka E, Luef G, Bauer G (2001) Idiopathic generalised epilepsy with pure grand mal: clinical and genetics data. Epilepsy Res 44:19–25.
Valentin A, Hindocha N, Osei-Lah A, et al. (2007) Idiopathic generalized epilepsy with absences: syndrome classification. Epilepsia 48:2187–90.
Verrotti A, Greco R, Giannuzzi R, Chiarelli F, Latini G (2007) Old and new antiepileptic drugs for the treatment of idiopathic generalized epilepsies. Curr Clin Pharmacol 2:249–59.
Wallace SJ (1998) Myoclonus and epilepsy in childhood: a review of treatment with valproate, ethosuximide, lamotrigine and zonisamide. Epilepsy Res 29:147–54.
Wirrell EC, Camfield CS, Camfield PR, Gordon KE, Dooley JM (1996) Long-term prognosis of typical childhood absence epilepsy: remission or progression to juvenile myoclonic epilepsy. Neurology 47:912–18.
Woermann FG, Sisodiya SM, Free SL, Duncan JS (1998) Quantitative MRI in patients with idiopathic generalized epilepsy: evidence of widespread cerebral structural changes. Brain 121:1661–7.
Wolf P (1992) Juvenile absence epilepsy. In: Roger J, Dravet C, Bureau M, Dreifuss FE, Wolf P (eds.) Epileptic Syndromes in Infancy, Childhood and Adolescence, 2nd edn. Montrouge, France: John Libbey Eurotext, pp. 307–12.
Yenjun S, Harvey AS, Marini C, et al. (2003) EEG in adult-onset idiopathic generalized epilepsy. Epilepsia 44:252–6.

References

Aicardi J, Chevrie JJ (1982) Atypical benign partial epilepsy of childhood. Dev Med Child Neurol 24:281–92.
Ambrosetto G (1992) Unilateral opercular macrogyria and benign childhood epilepsy with centrotemporal (rolandic) spikes. Epilepsia 33:499–503.
Andermann E, Andermann F (1987) Migraine epilepsy relationship: epidemiological and genetic aspects. In: Andermann F, Lugaresi E (eds.) Migraine and Epilepsy. Boston, MA: Butterworth, pp. 281–92.
Andermann F, Lugaresi E (eds.) (1987) Migraine and Epilepsy. Boston, MA: Butterworth.
Andermann F, Zifkin B (1998) The benign occipital epilepsies of childhood: an overview of the idiopathic syndromes and of the relationship to migraine. Epilepsia 39(suppl 4):59–23.
Berkovic SF, Scheffer IE (1999) Genetics of partial epilepsies: new frontiers. In: Berkovic SF, Genton P, Hirsch E, Picard F (eds.) Genetics of Focal Epilepsies. Montrouge, France: John Libbey Eurotext, pp. 7–14.
Bladin PF (1987) The association of benign rolandic epilepsy with migraine. In: Andermann F, Lugaresi E (eds.) Migraine and Epilepsy. Boston, MA: Butterworth, pp. 145–52.
Blom S, Heijbel J, Bergfors PG (1972) Benign epilepsy of children with centrotemporal foci: prevalence and follow-up study of 40 patients. Epilepsia 13:609–19.
Bray PF, Wiser WC (1964) Evidence for a genetic etiology of temporal central abnormalities in focal epilepsy. N Engl J Med 271:926–33.
Caraballo R, Fejerman N (2007a) Late-onset childhood occipital epilepsy (Gastaut type). In: Fejerman N, Caraballo R (eds.) Benign Focal Epilepsies in Infancy, Childhood and Adolescence. Montrouge, France: John Libbey Eurotext, pp. 145–67.
Caraballo R, Fejerman N (2007b) Benign familial and non-familial infantile seizures. In: Fejerman N, Caraballo R (eds.) Benign Focal Epilepsies in Infancy, Childhood and Adolescence. Montrouge, France: John Libbey Eurotext, pp. 31–49.
Caraballo RH, Cersosimo RO, Medina CS, Tenembaum S, Fejerman N (1997) Epilepsias parciales idiopáticas con paroxismos occipitales. Revista de Neurologia 25:1052–8.
Caraballo R, Cersosimo R, Fejerman N (1998) Idiopathic partial epilepsies with rolandic and occipital spikes appearing in the same children. J Epilepsy 11:261–4.
Caraballo R, Cersosimo R, Medina C, Fejerman N (2000) Panayiotopoulos-type benign childhood occipital epilepsy: a prospective study. Neurology 55:1096–100.
Caraballo R, Pavek S, Lemainque A, et al. (2001) Linkage of benign familial infantile convulsions to chromosome 16p12–q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. Am J Hum Genet 68:788–94.
Caraballo RH, Sologuestua A, Granana N, et al. (2004) Idiopathic occipital and absence epilepsies appearing in the same children. Pediatr Neurol 30:24–8.
Caraballo RH, Cersosimo RO, Fejerman N (2005) Late-onset, “Gastaut type”, childhood occipital epilepsy: an unusual evolution. Epileptic Disord 7:341–6.
Caraballo R, Cersósimo R, Fejerman N (2007a) Panayiotopoulos syndrome: a prospective study of 192 patients. Epilepsia 48:1054–61.
Caraballo R, Cersósimo R, Fejerman N (2007b) Symptomatic focal epilepsies imitating atypical evolutions of idiopathic focal epilepsies in childhood. In: Fejerman N, Caraballo R (eds.) Benign Focal Epilepsies in Infancy, Childhood and Adolescence. Montrouge, France: John Libbey Eurotext, pp. 221–39.
Caraballo R, Cersósimo R, Fejerman R (2008a) Childhood occipital epilepsy of Gastaut: study of 33 patients. Epilepsia 49:288–97.
Caraballo R, Fontana E, Darra F, et al. (2008b) Childhood absence epilepsy and electroencephalographic focal abnormalities with or without clinical manifestations. Seizures 17:617–24.
Covanis A, Lada C, Skiadas K (2003) Children with rolandic spikes and ictus emeticus: rolandic epilepsy or Panayiotopoulos syndrome? Epileptic Disorders 5:139–43.
Covanis A, Ferrie CD, Koutroumanidis M, et al. (2005) Panayiotopoulos syndrome and Gastaut type idiopathic childhood occipital epilepsy. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P (eds.) Epileptic Syndromes in Infancy, Childhood and Adolescence, 4th edn. Montrouge, France: John Libbey Eurotext, pp. 227–53.
Dalla Bernardina B, Sgro V, Fejerman N (2005) Epilepsy with centrotemporal spikes and related syndromes. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P (eds.) Epileptic Syndromes in Infancy, Childhood and Adolescence, 4th edn. Montrouge, France: John Libbey Eurotext, pp. 203–25.
Degen R, Degen HE (1990) Some genetic aspects of rolandic epilepsy: waking and sleep EEGs in siblings. Epilepsia 31:795–801.
Doose H, Brigger-Heuer B, Neubauer B (1997) Children with focal sharp waves: clinical and genetic aspects. Epilepsia 38:788–96.
Eeg-Olofsson O (1992) Further genetic aspects in benign localized epilepsies in early childhood. In: Degen R, Dreifuss FE (eds.) Benign Localized and Generalized Epilepsies of Early Childhood. Amsterdam: Elsevier, pp. 117–19.
Engel J Jr. (2001) A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 42:796–803.
Engel J (2006) Report of the ILAE Classification Core Group. Epilepsia 47:1558–68.
Fejerman N (2002) Benign focal epilepsies in infancy, childhood and adolescence. Rev Neurol 34:7–18.
Fejerman N, Caraballo R (eds.) (2007a) Benign Focal Epilepsies in Infancy, Childhood and Adolescence. Montrouge, France: John Libbey Eurotext.
Fejerman N, Caraballo R (2007b) Panayiotopoulos syndrome. In: Fejerman N, Caraballo R (eds.) Benign Focal Epilepsies in Infancy, Childhood and Adolescence. Montrouge, France: John Libbey Eurotext, pp. 115–144.
Fejerman N, Panayiotopoulos CP (2008) Early-onset benign childhood occipital epilepsy (Panayiotopoulos type). In: Engel J, Pedley T (eds.) Epilepsy: A Comprehensive Textbook, 2nd edn. Philadelphia, PA: Lippincott Williams and Wilkins, pp. 2379–86.
Fejerman N, Di Blasi AM (1987) Status epilepticus of benign partial epilepsies in children: report of two cases. Epilepsia 28:351–5.
Fejerman N, Caraballo R, Tenembaum SN (2000) Atypical evolutions of benign localization-related epilepsies in children: are they predictable? Epilepsia 41:380–90.
Fejerman N, Caraballo R, Dalla Bernardina B (2007) Benign childhood epilepsy with centrotemporal spikes. In: Fejerman N, Caraballo R (eds.) Benign Focal Epilepsies in Infancy, Childhood and Adolescence. Montrouge, France: John Libbey Eurotext, pp. 77–113.
Ferrie CD, Caraballo RH, Covanis A, et al. (2006) Panayiotopoulos syndrome: a consensus view. Dev Med Child Neurol 48:236–40.
Ferrie CD, Caraballo R, Covanis A, et al. (2007) Autonomic status epilepticus in Panayiotopoulos syndrome and other childhood and adult epilepsies: a consensus view. Epilepsia 48:1165–72.
Fraga MF, Ballestar E, Paz MF, et al. (2005) From the cover epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci USA 102:604–9.
Gambardella A, Aguglia U, Guerrini R, et al. (1996) Sequential occurrence of benign partial epilepsy and childhood absence epilepsy in three patients. Brain Dev 18:212–15.
Gastaut H (1982) A new type of epilepsy: benign partial epilepsy of childhood with occipital spike-waves. Clin Electroencephalogr 13:13–22.
Gastaut H, Zifkin B (1987) Benign epilepsy of childhood with occipital spike and wave complexes. In: Andermann F, Lugaresi E (eds.) Migraine and Epilepsy. Boston, MA: Butterworth, pp. 47–81
Gastaut H, Roger J, Bureau M (1992) Benign epilepsy of childhood with occipital paroxysms: update. In: Roger J, Bureau M, Dravet C, Dreifuss FE, Perret A, Wolf P (eds.) Epileptic Syndromes in Infancy, Childhood and Adolescence, 2nd edn. Montrouge, France: John Libbey Eurotext, pp. 201–17.
Grosso S, Orrico A, Galli L, et al. (2007) SCN1A mutation associated with atypical Panayiotopoulos syndrome. Neurology 69:609–11.
Grosso S, Vivarelli R, Gobbi G, et al. (2008) Late-onset childhood occipital epilepsy (Gastaut type): a family study. Eur J Paediatr Neurol 12:421–6.
Guerrini R, Bonanni P, Parmeggiani L, Belmonte A (1997) Adolescent onset of idiopathic photosensitive occipital epilepsy after remission of benign rolandic epilepsy. Epilepsia 38:777–81.
Guerrini R, Bonanni P, Nardocci N, et al. (1999) Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12–11.2. Ann Neurol 45:344–52.
Heijbel J, Blom S, Rasmuson M (1975) Benign epilepsy of childhood with centrotemporal EEG foci: a genetic study. Epilepsia 16:285–93.
ILAE Commission on Classification and Terminology (1989) Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 30:389–99.
Kajitani T, Nakamura M, Ueoka K, Koduchi S (1980) Three pairs of monozygotic twins with rolandic discharges. In: Wada J, Penny J (eds.) Advances in Epileptology: The Tenth International Symposium. New York: Raven Press, pp. 171–5.
Kajitani T, Kimura T, Sumita M, Kaneko M (1992) Relationship between benign epilepsy of children with centrotemporal EEG foci and febrile convulsions. Brain Dev 14:230–4.
Kinton L, Johnson MR, Smith SJ, et al. (2002) Partial epilepsy with pericentral spikes: a new familial epilepsy syndrome with evidence for linkage to chromosome 4p15. Ann Neurol 51:740–9.
Kuzniecky R, Rosenblatt B (1987) Benign occipital epilepsy: a family study. Epilepsia 28:346–50.
Livingston JH, Cross JH, McLellan A, et al. (2009) A novel inherited mutation in the voltage sensor region of SCNIA is associated with Panayiotopoulos syndrome in siblings and generalised epilepsy with febrile seizures plus. J Child Neurol 24:503–8.
Loiseau P, Duche B (1989) Benign childhood epilepsy with centrotemporal spikes. Cleve Clin J Med 56:517–22.
Loiseau P, Cohadon F, Mortureux Y (1967) A propos d'une forme singulière d'épilepsie de l'enfant. Rev Neurol (Paris) 116:244–8.
Loiseau P, Duche B, Cordova S, Dartigues JF, Cohadon S (1988) Prognosis of benign childhood epilepsy with centrotemporal spikes: a follow-up study of 168 patients. Epilepsia 29:229–35.
Lombroso CT (1967) Sylvian seizures and midtemporal spike foci in children. Arch Neurol 17:52–9.
Maihara T, Tsuji M, Higuchi Y, Hattori H (1999) Benign familial neonatal convulsions followed by benign epilepsy with centrotemporal spikes in two siblings. Epilepsia 40:110–13.
Mulley JC, Scheffer IE, Petrou J, et al. (2005). SCN1A mutations and epilepsy. Hum Mutat 25:535–42.
Neubauer BA, Fiedler B, Himmelein B, et al. (1998) Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14. Neurology 51:1608–12.
Otsubo H, Chiloku S, Ochi A, et al. (2001) Malignant rolandic–sylvian epilepsy in children: diagnostic, treatment, and outcomes. Neurology 57:590–6.
Panayiotopoulos CP (1989a) Benign childhood epilepsy with occipital paroxysms: a 15-year prospective study. Ann Neurol 26:51–6.
Panayiotopoulos CP (1989b) Benign nocturnal childhood occipital epilepsy: a new syndrome with nocturnal seizures, tonic deviation of the eyes, and vomiting. J Child Neurol 4:43–9.
Panayiotopoulos CP (1999) Benign Childhood Partial Seizures and Related Epileptic Syndromes. Montrouge, France: John Libbey Eurotext.
Panayiotopoulos CP, Igoe DM (1992) Cerebral insult-like partial status epilepticus in the early-onset variant of benign childhood epilepsy with occipital paroxysms. Seizure 1:99–102.
Pruna D, Persico I, Serra D, et al. (2000) Lack of association with the 15q14 candidate region for benign epilepsy of childhood with centro-temporal spikes in a Sardinian population. Epilepsia 41:164.
Ramelli GP, Donati F, Moser H, Vassella F (1998) Concomitance of childhood absence and rolandic epilepsy. Clin Electroencephalogr 29:177–80.
Roll P, Rudolf G, Pereira S, et al. (2006) SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet 15:1195–207.
Santanelli P, Bureau M, Magaudda A, et al. (1989) Benign partial epilepsy with centrotemporal (or rolandic) spikes and brain lesion. Epilepsia 30:182–8.
Sarkis R, Loddenkemper T, Burgess RC, et al. (2009) Childhood absence epilepsy in patients with benign focal epileptiform discharges. Pediatr Neurol 41:428–34.
Scheffer IE (1999) Autosomal dominant rolandic epilepsy with speech dyspraxia. In: Berkovic SF, Genton P, Hirsch E, Picard F (eds.) Genetics of Focal Epilepsies. Montrouge, France: John Libbey Eurotext, pp. 109–14.
Scheffer IE, Jones L, Pozzebon M, et al. (1995) Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation. Ann Neurol 38:633–42.
Scheffer IE, Harkin LA, Grinton DE, et al. (2007) Temporal lobe epilepsy and GEFS+, phenotypes associated with SCN1B mutations. Brain 130:100–9.
Sheth RD, Gutierrez AR, Riggs JE (1997) Rolandic epilepsy and cortical dysplasia: MRI correlation of epileptiform discharges. Pediatr Neurol 17:177–9.
Shevell MI, Rosenblatt B, Watters GV, et al. (1996) “Pseudo-BECRS”: intracranial focal lesions suggestive of a primary partial epilepsy syndrome. Pediatr Neurol 14:31–5.
Steinlein OK, Neubauer BA, Sander T, et al. (2001) Mutation analysis of the potassium chloride cotransporter KCC3 (SLC12A6) in rolandic and idiopathic generalized epilepsy. Epilepsy Res 44:191–5.
Strug LJ, Clarke T, Bali B, et al. (2007) Major locus for centrotemporal sharp waves in rolandic epilepsy families maps to chromosome 11p. Ann Neurol 62:95.
Strug L, Clarke T, Chiang T, et al. (2009) Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to elongator protein complex 4 (ELP4). Eur J Hum Genet 17:1171–81.
Taylor I, Berkovic S, Kivity S, Scheffer I (2008) Benign occipital epilepsies of childhood: clinical features and genetics. Brain 131:2287–94.
Vadlamudi L, Kjeldsen MJ, Corey LA, et al. (2006) Analyzing the etiology of benign rolandic epilepsy: a multicenter twin collaboration. Epilepsia 47:550–5.
Vaughn BV, Greenwood RS, Aylsworth AS, Tennison MB (1996) Similarities of EEG and seizures in del(1q) and benign rolandic epilepsy. Pediatr Neurol 15:261–4.
Wirrell EC, Hamiwka LD (2006) Do children with benign rolandic epilepsy have a higher prevalence of migraine than those with other partial epilepsies or nonepilepsy controls? Epilepsia 47:1674–81.