Acute encephalopathy with a truncation mutation in the SCN1A gene: A case report

作者：Takayanagi Masaru^*; Haginoya Kazuhiro; Umehara Naoki; Kitamura Taro; Numata Yurika; Wakusawa Keisuke; Hino Fukuyo Naomi; Mazaki Emi; Yamakawa Kazuhiro; Ohura Toshihiro; Ohtake Masatoshi

来源：Epilepsia, 2010, 51(9): 1886-1888.

DOI：10.1111/j.1528-1167.2010.02600.x

• Voltage-gated sodium channel
• Frameshift mutation
• Status epilepticus
• Diffusion-weighted imaging

P>A girl aged 1 year 9 months had recurrent episodes of febrile status epilepticus. She recovered completely after the first three episodes. However, at 9 months she developed acute encephalopathy resulting in severe neurologic sequelae. Diffusion-weighted magnetic resonance imaging revealed diffuse high-intensity signals over the cortex and subcortical white matter in the acute phase and severe diffuse cerebral atrophy in the chronic phase. Mutations were detected in the neuronal voltage-gated sodium channel alpha subunit type 1 (SCN1A) gene. SCN1A sequence analysis revealed a truncation mutation: ex1-c.126Adel (D43fs). Our patient was likely afflicted by severe myoclonic epilepsy in infancy, and the fourth episode of status epilepticus was similar to acute encephalopathy. This report provides further insight into the molecular pathophysiology underlying acute encephalopathy.

• 出版日期2010-9