Baillière's clinical neurology
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There is good evidence for a genetic causation of a significant proportion of the human epilepsies. These genetic epilepsies include a large number of rare mendelian syndromes in which epilepsy usually occurs as part of a more complex neurological phenotype, and the more common familial epilepsies in which seizures occur in isolation but inheritance is not mendelian. The molecular basis of these epilepsies is entirely unknown. ⋯ Linkage analysis of non-mendelian epilepsies is more difficult, but may be feasible with the generation of high-resolution linkage maps of the human genome. A number of plausible candidate genes for the epilepsies have now been cloned, including in particular the ligand-gated and voltage-gated ion channels. An understanding of the genetic epilepsies at a molecular level will provide new precision in diagnosis and genetic counselling, and may allow new strategies for pharmacological control of seizures.