tab005mgu: Genetics of some Mendelian disorders that have epilepsy as part of their phenotype

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Genetics of some Mendelian disorders that have epilepsy as part of their phenotype

Louise Bate and Mark Gardiner

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Table 5. Genetics of some Mendelian disorders that have epilepsy as part of their phenotype (tab005mgu)
Disorder Mode of inheritance	Clinical phenotype including seizures	Gene locus, chromosomal location and gene product and function	Refs
Tuberous sclerosis complex Autosomal dominant.	Cortical dysplastic lesions, renal cysts or angiolipomata, cardiac rhabdomyomas and hypopigmented skin lesions. Seizures: infantile spasms are characterised by simple and complex partial, myoclonic and GTCS, febrile convulsions.	(1) TSC1; 9q34; tuberin, which might be a GTPase-activating protein (it also has a tumour-suppressor role). (2) TSC2; 16p13.3; hamartin, the function of which is unknown, but it interacts with tuberin and has a tumour-suppressor role.	106 107 108
Fragile X syndrome X-linked.	Mental retardation, facial dysmorphism, high-arched palate and macro orchidism. Seizures: GTCS and partial with or without secondary generalisation.	FMR1; Xq27.3; FRMP, the function of which is unknown, but it might play a role in protein translation.	109
Angelman syndrome Imprinting (loss of maternal information).	Mental retardation, hyperactivity, happy disposition and ataxia. Seizures: absences, myoclonic and GTCS; EEG characterised by a large amplitude spike and slow waves.	Interstitial deletion; 15q11–13; de novo deletion or uniparental disomy. The genes deleted include: UBE3A, GABRB3, GABRA5 and GABRAG3.	110 111
Rett syndrome Might be X-linked dominant.	Normal infancy but loss of acquired hand and communication skills, and gait apraxia. Seizures: characteristic EEG pattern, with or without GTCS.	Unknown, ?Xq28; unknown.	112
Neuro-fibromatosis Autosomal dominant.	Neurofibromata, gliomas, osseous dysplasia and learning difficulties. Seizures: complex partial infantile spasms, absences and GTCS.	NF1; 17q11.2; neurofibromin, which might be a GTPase-activating protein (has a tumour-suppressor role).	113 114
Huntington’s disease Autosomal dominant.	Chorea, gait abnormalities, personality changes, dementia and dystonia. Seizures: frequent in early-onset disease, atypical absences, myoclonic and GTCS.	HD (or huntingtin); 4p16.3; huntingtin, which might be important in embryogenesis, especially neurogenesis.	115 116
Abbreviations used: EEG = electroencephalogram; GTCS = generalised tonic-clonic seizures; GTPase = GTP phosphohydrolase.

References cited in Table 5

106 The European Chromosome 16 Tuberous Sclerosis Consortium (1993) Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75, 1305-1315, PubMed

107 Povey, S. et al. (1994) Two loci for tuberous sclerosis: one on 9q34 and one on 16p13. Ann Hum Genet 58, 107-127, PubMed

108 van Slegtenhorst, M. et al. (1997) Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277, 805-808, PubMed

109 de Vries, B.B. et al. (1998) The fragile X syndrome. J Med Genet 35, 579-589, PubMed

110 Cassidy, S.B. and Schwartz, S. (1998) Prader-Willi and Angelman syndromes. Disorders of genomic imprinting. Medicine (Baltimore) 77, 140-151, PubMed

111 Minassian, B.A. et al. (1998) Angelman syndrome: correlations between epilepsy phenotypes and genotypes. Ann Neurol 43, 485-493, PubMed

112 Clarke, A. (1996) Rett syndrome. J Med Genet 33, 693-699, PubMed

113 Gutmann, D.H. and Collins, F.S. (1993) The neurofibromatosis type 1 gene and its protein product, neurofibromin. Neuron 10, 335-343, PubMed

114 Korf, B.R. (1997) Neurocutaneous syndromes: neurofibromatosis 1, neurofibromatosis 2, and tuberous sclerosis. Curr Opin Neurol 10, 131-136, PubMed

115 The Huntington’s Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell 72, 971-983, PubMed

116 Walling, H.W., Baldassare, J.J. and Westfall, T.C. (1998) Molecular aspects of Huntington’s disease. J Neurosci Res 54, 301-308, PubMed

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