Yamakawa Kazuhiro
Laboratory for Neurogenetics, RIKEN Brain Science Institute, Hirosawa 2-1, Wako-shi, Saitama 351-0198, Japan.
Neuroreport. 2005 Jan 19;16(1):1-3. doi: 10.1097/00001756-200501190-00001.
Mutations in voltage-gated sodium channel genes (SCN1A, SCN2A, SCN1B) have been reported to be responsible for some epilepsies. Although studying such mutations to elucidate the disease mechanisms would be indispensable for the development of effective therapies, the functional consequences of these mutations remain controversial. Here, I propose a novel hypothesis for an epileptic disease mechanism which could drive the design of further studies to understand the molecular pathology of these diseases.
据报道,电压门控钠通道基因(SCN1A、SCN2A、SCN1B)的突变是导致某些癫痫的原因。尽管研究此类突变以阐明疾病机制对于开发有效疗法必不可少,但这些突变的功能后果仍存在争议。在此,我提出了一种关于癫痫疾病机制的新假说,这可能推动进一步研究的设计,以了解这些疾病的分子病理学。