Genetic basis of the human epilepsies.
Genetic factors contribute to aetiology in up to 40% of patients with epilepsy. Over 100 single gene Mendelian disorders include epilepsy as one component of what is usually a complex neurological phenotype, but the majority of idiopathic or primary epilepsies display a 'complex' non-Mendelian pattern of inheritance. There have been significant recent advances in understanding the genetic basis of inherited epilepsies at a molecular level. Epilepsy genes fall into several distinct categories including those in which mutations cause abnormal brain development, progressive neurodegeneration, disturbed energy metabolism and abnormal function of ion channels. Ion channel genes involved include those encoding neuronal nicotinic acetylcholine receptor subunits and voltage-gated potassium and sodium channels.
Gardiner
R M
RM
Department of Paediatrics, Royal Free and University College Medical School, University College London, The Rayne Institute, UK.
D000818:Animals; D004252:DNA Mutational Analysis; D004827:Epilepsy / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D051379:Mice; D015221:Potassium Channels / Q000235:genetics*; D011978:Receptors, Nicotinic / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
D015221:Potassium Channels; D011978:Receptors, Nicotinic; D015222:Sodium Channels