Skip to main content Accessibility help
  • Print publication year: 2014
  • Online publication date: April 2014

Chapter 22 - The borderland between epilepsy and movement disorders

from Section IV - Movement disorders in general neurology



The term “borderland of epilepsy” was coined by William Richard Gowers in 1907 when he described the borderland as disorders “near it (epilepsy), but not of it” (Crompton and Berkovic 2009).

Brief paroxysmal stereotyped events are the cardinal feature in both epilepsy and paroxysmal movement disorders (PMD). A seizure is an abnormal synchronous burst of neuronal activity, with epilepsy defined as a propensity to having seizures. Epilepsy is differentiated from movement disorders by the presence of characteristic ictal and interictal discharges on electroencephalography (EEG) and events may evolve into or be associated with generalized tonic-clonic or other seizures. Cortical involvement is a key factor in epileptic seizures, with the disruption between cortical and subcortical pathways influencing the semiology of the events. Altered functioning of subcortical structures is primarily implicated in generating PMD, although hypersynchronous discharges have not been disproved as the basis for PMD (Berkovic 2000).

Unlike generalized or complex partial seizures, movement disorders, in general, do not cause impaired consciousness. However, some seizures may cause very subtle alterations in mentation and in a number of sleep-related movement disorders patients have no recollection of the events. In addition, distinguishing between epilepsy and PMD in patients with developmental delay, impaired cognition, or altered mental status may present even greater difficulty.

Related content

Powered by UNSILO
Abbott, G. W., Butler, M. H., Bendahhou, S., Dalakas, M. C., Ptacek, L. J., and Goldstein, S. A. (2001). “MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis,” Cell 104: 217–31.
Alexopoulos, H. and Dalakas, M. C. (2010). “A critical update on the immunopathogenesis of Stiff Person Syndrome,” Eur. J. Clin. Invest. 40: 1018–25.
Baizabal-Carvallo, J. F. and Jankovic, J. (2012). “Movement disorders in autoimmune diseases,” Mov. Disord. 27(8): 935–46.
Berkovic, S. F. (2000). “Paroxysmal movement disorders and epilepsy: links across the channel,” Neurology 55(2): 169–70.
Berkovic, S. F., Heron, S. E., Giordano, L., Marini, C., Guerrini, R., Kaplan, R. E., et al. (2004). “Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy,” Ann. Neurol. 55: 550–7.
Berkovic, S. F., Mulley, J. C., Scheffer, I. E., and Petrou, S. (2006). “Human epilepsies: interaction of genetic and acquired factors,” Trends Neurosci. 29(7): 391–7.
Bernard, G. and Shevell, M. I. (2008). “Channelopathies: a review,” Pediatr. Neurol. 38(2): 73–85.
Biraben, A., Semah, F., Ribeiro, M. J., Douaud, G., Remy, P., and Depaulis, A. (2004). “PET evidence for a role of the basal ganglia in patients with ring chromosome 20 epilepsy,” Neurology 63(1): 73–7.
Bouilleret, V., Semah, F., Chassoux, F., Mantzaridez, M., Biraben, A., Trebossen, R., et al. (2008). “Basal ganglia involvement in temporal lobe epilepsy: a functional and morphologic study,” Neurology 70(3): 177–84.
Bozzi, Y., Dunleavy, M., and Henshall, D. C. (2011). “Cell signaling underlying epileptic behavior,” Front. Behav. Neurosci. 5: 45.
Browner, N., Azher, S. N., and Jankovic, J. (2006). “Botulinum toxin treatment of facial myoclonus in suspected Rasmussen encephalitis,” Mov. Disord. 21: 1500–2.
Caviness, J. N. (2009). “Pathophysiology and treatment of myoclonus,” Neurol. Clin. 27(3): 757–77.
Chabardès, S., Kahane, P., Minotti, L., Koudsie, A., Hirsch, E., and Benabid, A. L. (2002). “Deep brain stimulation in epilepsy with particular reference to the subthalamic nucleus,” Epileptic Disord. 4(Suppl. 3): S83–93.
Chadwick, D., Hallett, M., Harris, R., Jenner, P., Reynolds, E. H., and Marsden, C. D. (1977). “Clinical, biochemical, and physiological features distinguishing myoclonus responsive to 5-hydroxytryptophan, tryptophan with a monoamine oxidase inhibitor, and clonazepam,” Brain 100(3): 455–87.
Chauvel, P., Trottier, S., Vignal, J. P., and Bancaud, J. (1992). “Somatomotor seizures of frontal lobe origin,” Adv. Neurol. 57: 185–232.
Chkhenkeli, S. A. and Chkhenkeli, I. S. (1997). “Effects of therapeutic stimulation of nucleus caudatus on epileptic electrical activity of brain in patients with intractable epilepsy,” Stereotact. Funct. Neurosurg. 69(1–4 Pt. 2): 221–4.
Chkhenkeli, S. A., Sramka, M., Lortkipanidze, G. S., Rakviashvili, T. N., Bregvadze, E. Sh., Magalashvili, G. E., et al. (2004). “Electrophysiological effects and clinical results of direct brain stimulation for intractable epilepsy,” Clin. Neurol. Neurosurg. 106(4): 318–29.
Ciumas, C., Wahlin, T. B., Jucaite, A., Lindstrom, P., Halldin, C., and Savic, I. (2008). “Reduced dopamine transporter binding in patients with juvenile myoclonic epilepsy,” Neurology 71(11): 788–94.
Cokar, O., Gelisse, P., Livet, M. O., Bureau, M., Habib, M., and Genton, P. (2001). “Startle response: epileptic or non-epileptic? The case for ‘flash’ SMA reflex seizures,” Epileptic Disord. 3(1): 7–12.
Comella, C. L., Tanner, C. M., and Ristanovic, R. K. (1993). “Polysomnographic sleep measures in Parkinson’s disease patients with treatment-induced hallucinations,” Ann. Neurol. 34(5): 710–14.
Crompton, D. E. and Berkovic, S. F. (2009). “The borderland of epilepsy: clinical and molecular features of phenomena that mimic epileptic seizures,” Lancet Neurol. 8(4): 370–81.
Crompton, D. E., Sadleir, L. G., Bromhead, C. J., Bahlo, M., Bellows, S. T., Arsov, T., et al. (2012). “Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus,” Arch. Neurol. 69(4): 474–81.
Depienne, C., Magnin, E., Bouteiller, D., Stevanin, G., Saint-Martin, C., Vidailhet, M., Apartis, E., Hirsch, E., LeGuern, E., Labauge, P., and Rumbach, L. (2010). “Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p,” Neurology 74(24): 2000–3.
Deppe, M., Kellinghaus, C., Duning, T., Möddel, G., Mohammadi, S., Deppe, K., et al. (2008). “Nerve fiber impairment of anterior thalamocortical circuitry in juvenile myoclonic epilepsy,” Neurology 71(24): 1981–5.
Deprez, L., Weckhuysen, S., Holmgren, P., Suls, A., Van Dyck, T., Goossens, D., et al. (2010). “Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations,” Neurology 75(13): 1159–65.
Dichgans, M., Freilinger, T., Eckstein, G., Babini, E., Lorenz-Depiereux, B., Biskup, S., et al. (2005). “Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine,” Lancet Neurol. 366(9483): 371–7.
Edwards, M. J., Lang, A. E., and Bhatia, K. P. (2012). “Stereotypies: a critical appraisal and suggestion of a clinically useful definition,” Mov. Disord. 27(2): 179–85.
Eisensehr, I., Lindeiner, H., Jäger, M., and Noachtar, S. (2001). “REM sleep behavior disorder in sleep-disordered patients with versus without Parkinson’s disease: is there a need for polysomnography?J. Neurol. Sci. 186(1–2): 7–11.
Espeche, A. and Cersosimo, R. (2011). “Caraballo RH. Benign infantile seizures and paroxysmal dyskinesia: a well-defined familial syndrome,” Seizure 20(9): 686–91.
Feddersen, B., Remi, J., Kilian, M., Vercueil, L., Deransart, C., Depaulis, A., et al. (2012). “Is ictal dystonia associated with an inhibitory effect on seizure propagation in focal epilepsies?Epilepsy Res. 99(3): 274–80.
Fedi, M., Berkovic, S. F., Scheffer, I. E., O’Keefe, G., Marini, C., Mulligan, R., et al. (2008). “Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy,” Neurology 71(11): 795–8.
Fisher, R., Salanova, V., Witt, T., Worth, R., Henry, T., Gross, R., et al. (SANTE Study Group) (2010). “Electrical stimulation of the anterior nucleus of thalamus for treatment of refractory epilepsy,” Epilepsia 51(5): 899–908.
Franzini, A., Messina, G., Marras, C., Villani, F., Cordella, R., and Broggi, G. (2008). “Deep brain stimulation of two unconventional targets in refractory non-resectable epilepsy,” Stereotact. Funct. Neurosurg. 86(6): 373–81.
Frucht, S. (2002). “Dystonia, athetosis, and epilepsia partialis continua in a patient with late-onset Rasmussen’s encephalitis,” Mov. Disord. 17(3): 609–12.
Fulp, C. T., Cho, G., Marsh, E. D., Nasrallah, I. M., Labosky, P. A., and Golden, J. A. (2008). “Identification of Arx transcriptional targets in the developing basal forebrain,” Hum. Mol. Genet. 17(23): 3740–60.
Gabasvili, V. M., Chkhenkeli, S. A., and Sramka, M. (1988). “The treatment of status epilepticus by electrostimulation of deep brain structures,” presented at: Modern Trends in Neurology and Neurological Emergencies, The First European Congress of Neurology (Prague).
Gambardella, A., Andermann, F., Shorvon, S., Le Piane, E., and Aguglia, U. (2008). “Limited chronic focal encephalitis: another variant of Rasmussen syndrome?Neurology 70(5): 374–7.
Gangarossa, G., Di Benedetto, M., O’Sullivan, G. J., Dunleavy, M., Alcacer, C., Bonito-Oliva, A., et al. (2011). “Convulsant doses of a dopamine D1 receptor agonist result in Erk-dependent increases in Zif268 and Arc/Arg3.1 expression in mouse dentate gyrus,” PLoS One 6(5): e19415.
Geis, C., Weishaupt, A., Hallermann, S., Grünewald, B., Wessig, C., Wultsch, T., et al. (2010). “Stiff person syndrome-associated autoantibodies to amphiphysin mediate reduced GABAergic inhibition,” Brain 133(11): 3166–80.
Grant, R. and Graus, F. (2009). “Paraneoplastic movement disorders,” Mov. Disord. 24(12): 1715–24.
Guerrini, R., Moro, F., Kato, M., Barkovich, A. J., Shiihara, T., McShane, M. A., et al. (2007). “Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus,” Neurology 69(5): 427–33.
Hallett, M., Chadwick, D., and Marsden, C. D. (1979). “Cortical reflex myoclonus,” Neurology 29(8): 1107–25.
Hanna, P. A. and Walters, A. (2003). “Benign neonatal sleep myoclonus” in Chokroverty, S., Hening, W. A., and Walters, A., Sleep and Movement Disorders (Philadelphia, PA: Butterworth-Heinemann).
Haut, S. R. and Albin, R. L. (2008). “Dopamine and epilepsy: hints of complex subcortical roles,” Neurology 71(11): 784–5.
Homanics, G. E., DeLorey, T. M., Firestone, L. L., Quinlan, J. J., Handforth, A., Harrison, N. L., et al. (1997). “Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior,” Proc. Natl. Acad. Sci. USA 94: 4143–8.
Ikeda, A. and Kurihara, H. (2005). “Possible anticipation in BAFME: three generations examined in a Japanese family,” Mov. Disord. 8: 1076–89.
Inoue, S. (1951). “On a pedigree of the hereditary tremor with epileptiform seizures,” J. Neuro. Psychiatry 53: 33–7.
Irani, S. R. and Vincent, A. (2012). “The expanding spectrum of clinically-distinctive, immunotherapy-responsive autoimmune encephalopathies,” Arq. Neuropsiquiatr. 70(4): 300–4.
Kase, D., Inoue, T., and Imoto, K. (2012). “Roles of the subthalamic nucleus and subthalamic HCN channels in absence seizures,” J. Neurophysiol. 107(1): 393–406.
Kortüm, F., Das, S., Flindt, M., Morris-Rosendahl, D. J., Stefanova, I., Goldstein, A., et al. (2011). “The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis,” J. Med. Genet. 48(6): 396–406.
Hahn, C. D. (2007). “The ARX story: a new twist,” Neurology 69(5): 421–2.
Harvey, R. J., Topf, M., Harvey, K., and Rees, M. I. (2008). “The genetics of hyperekplexia: more than startle!Trends Genet. 24(9): 439–47.
Husain, A. M. and Sinha, S. R. (2011). “Nocturnal epilepsy in adults,” J. Clin. Neurophysiol. 28(2): 141–5.
Korn-Lubetzki, I., Bien, C. G., Bauer, J., Gomori, M., Wiendl, H., Trajo, L., et al. (2004). “Rasmussen encephalitis with active inflammation and delayed seizures onset,” Neurology 62(6): 984–6.
Krauss, G. L. and Mathews, G. C. (2003). “Similarities in mechanisms and treatments for epileptic and non-epileptic myoclonus,” Epilepsy Curr. 3(1): 19–21.
Kurian, M., Fluss, J., and Korff, C. (2012). “Anti-NMDA receptor encephalitis: the importance of early diagnosis and aggressive immunotherapy in tumor negative pediatric patients,” Eur. J. Paediatr. Neurol. 16(6): 764–5.
Kurian, M. A., Gissen, P., Smith, M., Heales, S., and Clayton, P. T. (2011). “The monoamine neurotransmitter disorders: an expanding range of neurological syndromes,” Lancet Neurol. 10(8): 721–33.
Lee, H. Y., Huang, Y., Bruneau, N., Roll, P., Roberson, E. D., Hermann, M., et al. (2012). “Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions,” Cell Rep. 1(1): 2–12.
Lee, H. Y., Xu, Y., Huang, Y., Ahn, A. H., Auburger, G. W., Pandolfo, M., et al. (2004). “The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway,” Hum. Mol. Genet. 13(24): 3161–70.
Le Meur, N., Holder-Espinasse, M., Jaillard, S., Goldenberg, A., Joriot, S., Amati-Bonneau, P., et al. (2010). “MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations,” J. Med. Genet. 47(1): 22–9.
Mastrangelo, M. and Leuzzi, V. (2012). “Genes of early-onset epileptic encephalopathies: from genotype to phenotype,” Pediatr. Neurol. 46(1): 24–31.
Matsumoto, R. R., Truong, D. D., Nguyen, K. D., Dang, A. T., Hoang, T. T., Vo, P. Q., et al. (2000). “Involvement of GABA(A) receptors in myoclonus,” Mov. Disord. 15(Suppl. 1): 47–52.
Mima, T., Nagamine, T., Ikeda, A., Yazawa, S., Kimura, J., and Shibasaki, H. (1998). “Pathogenesis of cortical myoclonus studied by magnetoencephalography,” Ann. Neurol. 43: 598–607.
Mima, T., Nagamine, T., Nishitani, N., Mikuni, N., Ikeda, A., Fukuyama, H., et al. (1998). “Cortical myoclonus. Sensorimotor hyperexcitability,” Neurology 50: 933–42.
Mullen, S. A., Suls, A., De Jonghe, P., Berkovic, S. F., and Scheffer, I. E. (2010). “Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency,” Neurology 75(5): 432–40.
Nickels, K. and Wirrell, E. (2010). “GLUT1-ous maximus epilepticus: the expanding phenotype of GLUT-1 mutations and epilepsy,” Neurology 75(5): 390–1.
Nishi, A., Snyder, G. L., and Greengard, P. (1997). “Bidirectional regulation of DARPP-32 phosphorylation by dopamine,” J. Neurosci. 17(21): 8147–55.
Oakley, J. C. and Ojemann, G. A. (1982). “Effects of chronic stimulation of the caudate nucleus on a pre-existing alumina seizure focus,” Exp. Neurol. 75(2): 360–7.
O’Sullivan, G. J., Dunleavy, M., Hakansson, K., Clementi, M., Kinsella, A., Croke, D. T., et al. (2008). “Dopamine D1 vs D5 receptor-dependent induction of seizures in relation to DARPP-32, ERK1/2 and GluR1-AMPA signalling,” Neuropharmacology 54(7): 1051–61.
Paciorkowski, A. R., Thio, L. L., and Dobyns, W. B. (2011). “Genetic and biologic classification of infantile spasms,” Pediatr. Neurol. 45(6): 355–67.
Pons, R., Cuenca-León, E., Miravet, E., Pons, M., Xaidara, A., Youroukos, S., et al. (2012). “Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: report of two Southern European families,” Eur. J. Paediatr. Neurol. 16(1): 86–9.
Ridley, A., Kennard, C., Scholtz, C. L., Büttner-Ennever, J. A., Summers, B., and Turnbull, A. (1987). “Omnipause neurons in two cases of opsoclonus associated with oat cell carcinoma of the lung,” Brain 110 (Pt. 6): 1699–709.
Rochette, J., Roll, P., Fu, Y. H., Lemoing, A. G., Royer, B., Roubertie, A., et al. (2010). “Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome,” Epileptic Disord. 12(3): 199–204.
Sasaki, M., Sakuma, H., Fukushima, A., Yamada, K., Ohnishi, T., and Matsuda, H. (2009). “Abnormal cerebral glucose metabolism in alternating hemiplegia of childhood,” Brain Dev. 31(1): 20–6.
Seebohm, G. (2005). “Activators of cation channels: potential in treatment of channelopathies,” Mol. Pharmacol. 67(3): 585–8.
Shen, Y., Lee, H. Y., Rawson, J., Ojha, S., Babbitt, P., Fu, Y. H., et al. (2011). “Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability,” Hum. Mol. Genet. 20(12): 2322–32.
Shibasaki, H. and Hallett, M. (2005). “Electrophysiological studies of myoclonus,” Muscle Nerve 31(2): 157–74.
Sramka, M. and Chkhenkeli, S. A. (1990). “Clinical experience in intraoperational determination of brain inhibitory structures and application of implanted neurostimulators in epilepsy,” Stereotact. Funct. Neurosurg. 54–5: 56–9.
Sramka, M., Fritz, G., Galanda, M., and Nadvornik, P. (1976). “Some observations in treatment stimulation of epilepsy,” Acta Neurochir. (Wien) (Suppl. 23): 257–62.
Szepetowski, P., Rochette, J., Berquin, P., Piussan, C., Lathrop, G. M., and Monaco, A. P. (1997). “Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16,” Am. J. Hum. Genet. 61(4): 889–98.
Tassinari, C. A., Rubboli, G., Gardella, E., Cantalupo, G., Calandra-Buonaura, G., Vedovello, M., et al. (2005). “Central pattern generators for a common semiology in fronto-limbic seizures and in parasomnias. A neuroethologic approach,” Neurol. Sci. 26(Suppl. 3): s225–32.
Tenney, J. R. and Schapiro, M. B. (2010). “Child neurology: alternating hemiplegia of childhood,” Neurology 74(14): e57–9.
Terada, K., Ikeda, A., Mima, T., Kimura, M., Nagahama, Y., Kamioka, Y., et al. (1997). “Familial cortical myoclonic tremor as a unique form of cortical reflex myoclonus,” Mov. Disord. 12: 370–7.
Tripathi, P. P., Santorufo, G., Brilli, E., Borrelli, E., and Bozzi, Y. (2010). “Kainic acid-induced seizures activate GSK-3β in the hippocampus of D2R-/- mice,” Neuroreport 21(12): 846–50.
Turner, G., Partington, M., Kerr, B., Mangelsdorf, M., and Gecz, J. (2002). “Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation,” Am. J. Med. Genet. 112(4): 405–11.
Uesaka, Y., Terao, Y., Ugawa, Y., Yumoto, M., Hanajima, R., and Kanazawa, I. (1996). “Magnetoencephalographic analysis of cortical myoclonic jerks,” Electroencephalogr. Clin. Neurophysiol. 99: 141–8.
Uncini, A., Basciani, M., Di Muzio, A., Antonini, D., and Onofrj, M. (1990). “Methyl bromide myoclonus: an electrophysiological study,” Acta Neurol. Scand. 81(2): 159–64.
Velísková, J. and Moshé, S. L. (2006). “Update on the role of substantia nigra pars reticulata in the regulation of seizures,” Epilepsy Curr. 6(3): 83–7.
Vincent, A., Bien, C. G., Irani, S. R., and Waters, P. (2011). “Autoantibodies associated with diseases of the CNS: new developments and future challenges,” Lancet Neurol. 10(8): 759–72.
Wang, J. L., Cao, L., Li, X. H., Hu, Z. M., Li, J. D., Zhang, J. G., et al. (2011). “Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias,” Brain 134(Pt. 12): 3493–501.
Wetter, T. C., Brunner, H., Högl, B., Yassouridis, A., Trenkwalder, C., and Friess, E. (2001). “Increased alpha activity in REM sleep in de novo patients with Parkinson’s disease,” Mov. Disord. 16(5): 928–33.
Zafeiriou, D., Vargiami, E., and Kontopoulos, E. (2003). “Reflex myoclonic epilepsy in infancy: a benign age-dependent idiopathic startle epilepsy,” Epileptic Disord. 5(2): 121–2.
Zeng, L. H., Rensing, N. R., and Wong, M. (2009). “Developing antiepileptogenic drugs for acquired epilepsy: targeting the mammalian target of rapamycin (mTOR) pathway,” Mol. Cell. Pharmacol. 1(3): 124–9.