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Chapter 34 - Inborn Errors of Metabolism and Single-Gene Disorders with Features of Neonatal Encephalopathy

from Section 4 - Specific Conditions Associated with Fetal and Neonatal Brain Injury

Published online by Cambridge University Press:  13 December 2017

By
Gregory M. Enns
Edited by
David K. Stevenson ,
William E. Benitz ,
Philip Sunshine ,
Susan R. Hintz  and
Maurice L. Druzin
David K. Stevenson
Affiliation:
Stanford University, California
William E. Benitz
Affiliation:
Stanford University, California
Philip Sunshine
Affiliation:
Stanford University, California
Susan R. Hintz
Affiliation:
Stanford University, California
Maurice L. Druzin
Affiliation:
Stanford University, California
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Fetal and Neonatal Brain Injury , pp. 534 - 556
Publisher: Cambridge University Press
Print publication year: 2017

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References

American College of Obstetricians and Gynecologists’ Task Force on Neonatal Encephalopathy. Executive summary: neonatal encephalopathy and neurologic outcome. Obstet Gynecol, 2014; 123(4): 896–901.Google Scholar
Biagas, K., Hypoxic-ischemic brain injury: advancements in the understanding of mechanisms and potential avenues for therapy. Curr Opin Pediatr 1999; 11(3): 223–8.Google Scholar
Greene, CL, Goodman, SI. Catastrophic metabolic encephalopathies in the newborn period: evaluation and management. Clin Perinatol 1997; 24(4): 773–86.Google Scholar
Khong, PL, et al. MRI of neonatal encephalopathy. Clin Radiol 2003; 58(11): 833–44.Google Scholar
Vannucci, RC. Hypoxic-ischemic encephalopathy. Am J Perinatol 2000; 17(3): 113–20.Google Scholar
Barkovich, AJ, Sargent, SK. Profound asphyxia in the premature infant: imaging findings. AJNR Am J Neuroradiol 1995; 16(9): 1837–46.Google Scholar
Barkovich, AJ, et al. Perinatal asphyxia: MR findings in the first 10 days. AJNR Am J Neuroradiol 1995; 16(3): 427–38.Google Scholar
Roland, EH, et al. Perinatal hypoxic-ischemic thalamic injury: clinical features and neuroimaging. Ann Neurol 1998; 44(2): 161–6.Google Scholar
Hoon, AH Jr, et al. Brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy: observations in distinguishing genetic-metabolic from acquired causes. J Pediatr 1997; 131(2): 240–5.CrossRefGoogle ScholarPubMed
Schwartz, ES, Barkovich, AJ. Brain and spine injuries in infancy and childhood. In Pediatric Neuroimaging. Philadelphia: Lippincott Williams & Wilkins, 2012: 240–366.Google Scholar
Barkovich, AJ, Patay, Z. Metabolic, toxic, and inflammatory brain disorders. In Barkovich, AJ, Raybaud, C, eds., Pediatric Neuroimaging. Philadelphia: Lippincott Williams & Wilkins, 2012: 81–239.Google Scholar
Haas, RH, et al. Acute basal ganglia infarction in propionic acidemia. J Child Neurol 1995; 10(1): 18–22.Google Scholar
Greenamyre, T, et al. Evidence for transient perinatal glutamatergic innervation of globus pallidus. J Neurosci 1987; 7(4): 1022–30.Google Scholar
Penn, AA, et al. Kernicterus in a full term infant. Pediatrics 1994; 93(6 Pt 1): 1003–6.Google Scholar
Ankarcrona, M. et al. Glutamate-induced neuronal death: a succession of necrosis or apoptosis depending on mitochondrial function. Neuron 1995; 15(4): 961–73.Google Scholar
Eliasson, MJ, et al. Poly(ADP-ribose) polymerase gene disruption renders mice resistant to cerebral ischemia. Nat Med 1997; 3(10): 1089–95.Google Scholar
Johnston, MV. Hypoxic and ischemic disorders of infants and children: lecture for 38th Meeting of Japanese Society of Child Neurology, Tokyo, Japan, July 1996. Brain Dev 1997; 19(4): 235–9.Google Scholar
Johnston, MV, Hoon, AH Jr. Possible mechanisms in infants for selective basal ganglia damage from asphyxia, kernicterus, or mitochondrial encephalopathies. J Child Neurol 2000; 15(9): 588–91.Google Scholar
Shi, Y, et al. Role of carbon monoxide and nitric oxide in newborn infants with postasphyxial hypoxic-ischemic encephalopathy. Pediatrics 2000; 106(6): 1447–51.Google Scholar
Blomgren, K, Hagberg, H. Free radicals, mitochondria, and hypoxia-ischemia in the developing brain. Free Radic Biol Med 2006; 40(3): 388–97.Google Scholar
Rousset, CI, et al. Mitochondria and perinatal brain injury. J Mater Fetal Neonatal Med 2012; 25(Suppl 1): 35–8.Google Scholar
Agani, FH, et al. The role of mitochondria in the regulation of hypoxia-inducible factor 1 expression during hypoxia. J Biol Chem 2000; 275(46): 35863–7.Google Scholar
Goldberg, RN, et al. Hyperammonemia associated with perinatal asphyxia. Pediatrics 1979; 64(3): 336–41.Google Scholar
Sheth, RD, Hobbs, GR, Mullett, M. Neonatal seizures: incidence, onset, and etiology by gestational age. J Perinatol 1999; 19(1): 40–3.Google Scholar
Vasudevan, C, Levene, M. Epidemiology and aetiology of neonatal seizures. Semin Fetal Neonatal Med 2013; 18(4): 185–91.Google Scholar
Van Hove, JL, Lohr, NJ. Metabolic and monogenic causes of seizures in neonates and young infants. Mol Genet Metab 2011; 104(3): 214–30.Google Scholar
Noh, GJ, Tavyev Asher, YJ, Graham, JM Jr. Clinical review of genetic epileptic encephalopathies. Eur J Med Genet 2012; 55(5): 281–98.Google Scholar
Papetti, L, et al. Metabolic epilepsy: an update. Brain Dev 2013; 35(9): 827–41.Google Scholar
Takahashi, Y, et al. Epilepsy in peroxisomal diseases. Epilepsia 1997; 38(2): 182–8.Google Scholar
Gire, C, et al. Clinical features and neuroradiological findings of mitochondrial pathology in six neonates. Childs Nerv Syst 2002; 18(11): 621–8.Google Scholar
von Kleist-Retzow, JC, et al. Antenatal manifestations of mitochondrial respiratory chain deficiency. J Pediatr 2003; 143(2): 208–12.Google Scholar
Enns, GM, et al. Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. J Pediatr 2002; 141(5): 695–700.Google Scholar
Hoffmann, GF, Surtees, RA, Wevers, RA. Cerebrospinal fluid investigations for neurometabolic disorders. Neuropediatrics 1998; 29(2): 59–71.Google Scholar
Hyland, K, Arnold, LA. Value of lumbar puncture in the diagnosis of infantile epilepsy and folinic acid-responsive seizures. J Child Neurol 2002; 17(Suppl 3): 3S48–55; discussion 3S56.Google Scholar
Mastrangelo, M, Leuzzi, V. Genes of early-onset epileptic encephalopathies: from genotype to phenotype. Pediatr Neurol 2012; 46(1): 24–31.Google Scholar
Nordli, DR Jr. Epileptic encephalopathies in infants and children. J Clin Neurophysiol 2012; 29(5): 420–4.Google Scholar
Epi, KC, et al. De novo mutations in epileptic encephalopathies. Nature 2013; 501(7466): 217–21.Google Scholar
Veeramah, KR, et al. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia 2013; 54(7): 1270–81.Google Scholar
Bekiesiniska-Figatowska, M, Rokicki, D, Walecki, J. MRI in nonketotic hyperglycinaemia: case report. Neuroradiology 2001; 43(9): 792–3.Google Scholar
del Toro, M, et al. Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension. Ann Neurol 2006; 60(1): 148–52.CrossRefGoogle ScholarPubMed
Mourmans, J, et al. Sequential MR imaging changes in nonketotic hyperglycinemia. Am J Neuroradiol 2006; 27(1): 208–11.Google Scholar
Roldan, A, et al. Glycine and other neurotransmitter amino acids in cerebrospinal fluid in perinatal asphyxia and neonatal hypoxic-ischaemic encephalopathy. Acta Paediatr 1999; 88(10): 1137–41.Google Scholar
Meyer, S, et al. A novel missense mutation in a neonate with nonketotic hyperglycinemia. Pediatr Neurol 2010; 43(5): 363–7.Google Scholar
Eyaid, WM, et al. An inborn error of metabolism presenting as hypoxic-ischemic insult. Pediatr Neurol 2005; 32(2): 134–6.CrossRefGoogle ScholarPubMed
Topcu, M, et al. Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopathy. J Child Neurol 2001; 16(4): 264–70.Google Scholar
Bayram, E, et al. Molybdenum cofactor deficiency: review of 12 cases (MoCD and review). Eur J Paediatr Neurol 2013; 17(1): 1–6.Google Scholar
Schwahn, BC, et al. Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study. Lancet 2015; 386(10007): 1955–63.Google Scholar
Plecko, B, et al. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat 2007; 28(1): 19–26.Google Scholar
Scharer, G, et al. The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. J Inherit Metab Dis 2010; 33(5): 571–81.Google Scholar
Baxter, P. Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch Dis Child 1999; 81(5): 431–3.CrossRefGoogle ScholarPubMed
Baxter, P, et al. Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. Dev Med Child Neurol 1996; 38(11): 998–1006.CrossRefGoogle ScholarPubMed
Haenggeli, CA, Girardin, E, Paunier, L. Pyridoxine-dependent seizures, clinical and therapeutic aspects. Eur J Pediatr 1991; 150(7): 452–5.Google Scholar
Hyland, K, et al. Folinic acid responsive seizures: a new syndrome? J Inherit Metab Dis 1995; 18(2): 177–81.Google Scholar
Torres, OA, et al. Folinic acid-responsive neonatal seizures. J Child Neurol 1999; 14(8): 529–32.CrossRefGoogle ScholarPubMed
Gallagher, RC, et al. Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol 2009; 65(5): 550–6.Google Scholar
Hoffmann, GF, et al. Pyridoxal 5’-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis 2007; 30(1): 96–9.CrossRefGoogle ScholarPubMed
Mills, PB, et al. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5’-phosphate oxidase. Hum Mol Genet 2005; 14(8): 1077–86.Google Scholar
Jaeken, J. Genetic disorders of gamma-aminobutyric acid, glycine, and serine as causes of epilepsy. J Child Neurol 2002; 17(Suppl 3): 3S84–7; discussion 3S88.Google Scholar
Kraoua, I, et al. 3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature. Neuropediatrics 2013; 44(5): 281–5.Google Scholar
Haberle, J, et al. Congenital glutamine deficiency with glutamine synthetase mutations. N Engl J Med 2005; 353(18): 1926–33.Google Scholar
Haberle, J, et al. Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance. Orphanet J Rare Dis 2012; 7: 48.Google Scholar
Ruzzo, EK, et al. Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron 2013; 80(2): 429–41.Google Scholar
Alfadhel, M, et al. Asparagine synthetase deficiency: new inborn errors of metabolism. JIMD Rep 2015; 22: 11–6.Google Scholar
Medina-Kauwe, LK, et al. 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. J Inherit Metab Dis 1999; 22(4): 414–27.Google Scholar
Parviz, M, et al. Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. J Pediatr Epilepsy 2014; 3(4): 217–27.Google Scholar
Au, KM, et al. Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluria. Hong Kong Med J 2003; 9(2): 130–2.Google Scholar
Enns, GM, et al. Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency. J Inherit Metab Dis 2004; 27(4): 513–22.Google Scholar
Marie, S, et al. AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Am J Hum Genet 2004; 74(6): 1276–81.Google Scholar
Jurecka, A, et al. Adenylosuccinate lyase deficiency. J Inherit Metab Dis 2015; 38(2): 231–42.Google Scholar
Stockler, S, et al. Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Am J Hum Genet 1996; 58(5): 914–22.Google Scholar
Gordon, N. Guanidinoacetate methyltransferase deficiency (GAMT). Brain Dev 2010; 32(2): 79–81.Google Scholar
De Vivo, DC, et al. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 1991; 325(10): 703–9.Google Scholar
De Vivo, DC, Leary, L, Wang, D. Glucose transporter 1 deficiency syndrome and other glycolytic defects. J Child Neurol 2002; 17(Suppl 3): S15–23; discussion S24–5.Google Scholar
Barkovich, AJ. Pediatric Neuroimaging, 3rd edn. Philadelphia: Lippincott, Williams & Wilkins, 2000: 71–156, 162–205.Google Scholar
Norman, MG, et al. Perinatal hemorrhagic and hypoxic-ischemic lesions. In Norman, MG, ed., Congenital Malformations of the Brain: Pathological and Genetic Aspects. Oxford University Press, 1995: 419–23.Google Scholar
Birch-Machin, MA, et al. Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain. Pediatr Res 1989; 25(5): 553–9.Google Scholar
von Dobeln, U, et al. Fatal neonatal lactic acidosis with respiratory insufficiency due to complex I and IV deficiency. Acta Paediatr 1993; 82(12): 1079–81.Google Scholar
Zeviani, M, Bertagnolio, B, Uziel, G. Neurological presentations of mitochondrial diseases. J Inherit Metab Dis 1996; 19(4): 504–20.CrossRefGoogle ScholarPubMed
Muraki, K, et al. Severe lactic acidosis and neonatal death in Pearson syndrome. J Inherit Metab Dis 1997; 20(1): 43–8.CrossRefGoogle ScholarPubMed
Procaccio, V, et al. Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. J Clin Invest 1999; 104(1): 83–92.Google Scholar
Willis, TA, et al. Cytochrome oxidase deficiency presenting as birth asphyxia. Dev Med Child Neurol 2000; 42(6): 414–7.Google Scholar
Molinari, F, et al. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet 2005; 76(2): 334–9.CrossRefGoogle ScholarPubMed
Muntau, AC, et al. Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? Neuropediatrics 2000; 31(3): 137–40.CrossRefGoogle ScholarPubMed
Hoffmann, GF, et al. Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics 1993; 91(5): 915–21.Google Scholar
Bakkeren, JA, et al. Organic aciduria in hypoxic premature newborns simulating an inborn error of metabolism. Eur J Pediatr 1977; 127(1): 41–7.Google Scholar
Martin, HC, et al. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum Mol Genet 2014; 23(12): 3200–11.Google Scholar
Ohba, C, et al. GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. Epilepsia 2015; 56(6): 841–8.Google Scholar
Nicita, F, et al. The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies. Seizure 2012; 21(1): 3–11.CrossRefGoogle ScholarPubMed
Tavyev Asher, YJ, Scaglia, F. Molecular bases and clinical spectrum of early infantile epileptic encephalopathies. Eur J Med Genet 2012; 55(5): 299–306.Google Scholar
Pavone, P, et al. Ohtahara syndrome with emphasis on recent genetic discovery. Brain Dev 2012; 34(6): 459–68.Google Scholar
Dedek, K, et al. Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. Epilepsy Res 2003; 54(1): 21–7.Google Scholar
Tang, S, et al. Encephalopathy and SCN1A mutations. Epilepsia 2011; 52(4): e26–30.CrossRefGoogle ScholarPubMed
Schanen, NC, et al. Neonatal encephalopathy in two boys in families with recurrent Rett syndrome. J Child Neurol 1998; 13(5): 229–31.Google Scholar
Mirzaa, GM, et al. CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol 2013; 48(5): 367–77.Google Scholar
Mencarelli, MA, et al. Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. J Med Genet 2010; 47(1): 49–53.CrossRefGoogle ScholarPubMed
Byrd, DJ, et al. Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia. Eur J Pediatr 1989; 148(6): 543–7.CrossRefGoogle ScholarPubMed
Robinson, BH, et al. Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex. J Inherit Metab Dis 1996; 19(4): 452–62.Google Scholar
Bonnefont, JP, et al. Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. J Pediatr 1992; 121(2): 255–8.Google Scholar
Haworth, JC, et al. Lactic acidosis in three sibs due to defects in both pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase complexes. Pediatrics 1976; 58(4): 564–72.Google Scholar
Kerrigan, JF, et al. Fumaric aciduria: clinical and imaging features. Ann Neurol 2000; 47(5): 583–8.Google Scholar
Wilcken, B, et al. Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet 2007; 369(9555): 37–42.Google Scholar
Duran, M, et al. 3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment. Eur J Pediatr 1991; 150(3): 190–5.Google Scholar
Stanley, CA, et al. Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. N Engl J Med 1992; 327(1): 19–23.Google Scholar
Bertrand, C, et al. Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts. Biochim Biophys Acta 1993; 1180(3): 327–9.Google Scholar
Hintz, SR, et al. Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies. Mol Genet Metab 2002; 75(2): 120–7.Google Scholar
Ibdah, JA, et al. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med 1999; 340(22): 1723–31.Google Scholar
Agsteribbe, E, et al. A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60. Biochem Biophys Res Commun 1993; 193(1): 146–54.Google Scholar
Briones, P, et al. A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60. J Inherit Metab Dis 1997; 20(4): 569–77.Google Scholar
Poggi, GM, et al. Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion. J Inherit Metab Dis 2000; 23(7): 755–7.Google Scholar
Valnot, I, et al. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet 2000; 67(5): 1104–9.Google Scholar
Seyda, A, et al. A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13. Am J Hum Genet 2001; 68(2): 386–96.Google Scholar
Mayr, JA, et al. Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. Am J Hum Genet 2011; 89(6): 792–7.Google Scholar
Huemer, M, et al. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. J Inherit Metab Dis 2015; 38(5): 905–14.Google Scholar
Nakano, Y, et al. Fatal case of mitochondrial DNA depletion with severe asphyxia in a newborn. Pediatr Int 2011; 53(2): 240–2.Google Scholar
Chitayat, D, et al. Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria. J Pediatr 1992; 121(1): 86–9.Google Scholar
Burlina, AB, Bonafe, L, Zacchello, F. Clinical and biochemical approach to the neonate with a suspected inborn error of amino acid and organic acid metabolism. Semin Perinatol 1999; 23(2): 162–73.Google Scholar
Livingston, JH, et al. Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes. Dev Med Child Neurol 2014; 56(7): 612–26.Google Scholar
Rice, G, et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet 2007; 81(4): 713–25.Google Scholar
Mochida, GH, et al. A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Am J Hum Genet 2010; 87(6): 882–9.Google Scholar
O’Driscoll, MC, et al. Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. Am J Hum Genet 2010; 87(3): 354–64.Google Scholar
Escobar, LF, et al. Neonatal presentation of lethal neuromuscular glycogen storage disease type IV. J Perinatol 2012; 32(10): 810–3.CrossRefGoogle ScholarPubMed
Tein, I. Neonatal metabolic myopathies. Semin Perinatol 1999; 23(2): 125–51.Google Scholar
Garcia, CA, et al. Neurological involvement in the Smith-Lemli-Opitz syndrome: clinical and neuropathological findings. Dev Med Child Neurol 1973; 15(1): 48–55.Google Scholar
Siintola, E, et al. Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain 2006; 129(Pt 6): 1438–45.Google Scholar
Simpson, MA, et al. Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. Nat Genet 2004; 36(11): 1225–9.Google Scholar
Jain, P, et al. Menkes disease: an important cause of early onset refractory seizures. J Pediatr Neurosci 2014; 9(1): 11–6.Google Scholar
Kurian, MA, et al. The monoamine neurotransmitter disorders: an expanding range of neurological syndromes. Lancet Neurol 2011; 10(8): 721–33.Google Scholar

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