Genetics of the epilepsies.
Molecular genetic analysis of mendelian epilepsies in humans and mice has revealed a diversity of underlying genes in symptomatic epilepsies associated with disordered brain development and neuronal survival. In contrast, the idiopathic mendelian epilepsies have emerged as a new category of channelopathies. New epilepsy loci have been mapped and one new epilepsy gene isolated. Functional analysis of epilepsy genes is providing new insights into the pathways that lead from mutant gene to hyperexcitable neurones. The major challenge for the future is the analysis of genetic epilepsies with complex inheritance.
Gardiner
M
M
Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, The Rayne Institute, UK. mark.gardiner@ucl.ac.uk
Lehesjoki
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AE
D000818:Animals; D001921:Brain / Q000254:growth & development; D002470:Cell Survival; D002874:Chromosome Mapping; D004827:Epilepsy / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008967:Molecular Biology; D009474:Neurons / Q000502:physiology; D015221:Potassium Channels / Q000235:genetics
D015221:Potassium Channels