Acute encephalopathy with a novel point mutation in the SCN2A gene

作者：Kobayashi Katsuhiro; Ohzono Hiroki; Shinohara Mayu; Saitoh Makiko^*; Ohmori Iori; Ohtsuka Yoko; Mizuguchi Masashi

来源：Epilepsy Research, 2012, 102(1-2): 109-112.

DOI：10.1016/j.eplepsyres.2012.04.016

• Voltage-gated sodium channel
• Missense mutation
• Acute encephalopathy

Mutations of the neuronal voltage-gated sodium channel alpha subunit type II (SCN2A) cause various epileptic syndromes, but have never been reported in association with acute encephalopathy. To validate the involvement of SCN2A mutations in acute encephalopathy, we screened 25 patients and found a novel missense mutation (Met1128Thr) in a patient With acute encephalitis with refractory, repetitive partial seizures (AERRPS). This finding suggests that SCN2A mutation is a predisposing factor for acute encephalopathy.

• 出版日期2012-11