てんかん症候群の原因遺伝子

Genes Responsible for Epileptic Syndromes

てんかん症候群の原因遺伝子同定から20年が経過した。現在では大田原症候群やウェスト症候群など孤発性のてんかん性脳症や限局性皮質異形成の原因が同定され，てんかんの病態がチャネル以外に介在ニューロン，シナプス放出，mTOR信号伝達など多彩であることが判明した。海外では次世代シーケンス技術が診療に活かされ，分子病態に基づく治療が始まりつつある。国内でも遺伝子診断から個別化治療への基盤整備が必要である。

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.