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

Masaru Takayanagi, Kazuhiro Haginoya, Naoki Umehara, Taro Kitamura, Yurika Numata, Keisuke Wakusawa, Naomi Hino-Fukuyo, Emi Mazaki, Kazuhiro Yamakawa, Toshihiro Ohura, Masatoshi Ohtake

Research output: Contribution to journalArticlepeer-review

28 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)1886-1888
Number of pages3
Issue number9
Publication statusPublished - 2010 Sept


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

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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