Acute encephalopathy with a novel point mutation in the SCN2A gene

Katsuhiro Kobayashi, Hiroki Ohzono, Mayu Shinohara, Makiko Saitoh, Iori Ohmori, Yoko Ohtsuka, Masashi Mizuguchi

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)109-112
Number of pages4
JournalEpilepsy Research
Volume102
Issue number1-2
DOIs
Publication statusPublished - Nov 2012

Fingerprint

Brain Diseases
Point Mutation
Mutation
Genes
Voltage-Gated Sodium Channels
Encephalitis
Missense Mutation
Causality
Seizures

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Acute encephalopathy with a novel point mutation in the SCN2A gene. / Kobayashi, Katsuhiro; Ohzono, Hiroki; Shinohara, Mayu; Saitoh, Makiko; Ohmori, Iori; Ohtsuka, Yoko; Mizuguchi, Masashi.

In: Epilepsy Research, Vol. 102, No. 1-2, 11.2012, p. 109-112.

Research output: Contribution to journalArticle

Kobayashi, K, Ohzono, H, Shinohara, M, Saitoh, M, Ohmori, I, Ohtsuka, Y & Mizuguchi, M 2012, 'Acute encephalopathy with a novel point mutation in the SCN2A gene', Epilepsy Research, vol. 102, no. 1-2, pp. 109-112. https://doi.org/10.1016/j.eplepsyres.2012.04.016
Kobayashi, Katsuhiro ; Ohzono, Hiroki ; Shinohara, Mayu ; Saitoh, Makiko ; Ohmori, Iori ; Ohtsuka, Yoko ; Mizuguchi, Masashi. / Acute encephalopathy with a novel point mutation in the SCN2A gene. In: Epilepsy Research. 2012 ; Vol. 102, No. 1-2. pp. 109-112.
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