title: [Genes Responsible for Epileptic Syndromes].
abstract: The first causative gene for epileptic syndrome was revealed 20 years ago. Since then, many genes responsible for epileptic syndrome, particularly sporadic epileptic encephalopathies, such as Ohtahara syndrome, West syndrome, and focal cortical dysplasia, have been identified. Although epilepsy was recognized as a channelopathy in the beginning stages of gene discovery, other molecular mechanisms for epileptic syndromes, such as interneuronopathy, synaptic vesicle release, and mTOR signal transduction, are emerging. A new technique for gene analysis using the next-generation sequencer is now available for clinical purpose abroad and precision medicine based on the molecular mechanisms has started. Infrastructural development of the official framework, from molecular diagnosis to personalized therapy, is urgently required in Japan.
authors.affiliation: Department of Pediatrics, Showa University School of Medicine.
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kato
mesh_terms: D000818:Animals; D001921:Brain / Q000473:pathology*; D004569:Electroencephalography / Q000379:methods; D004827:Epilepsy / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics*