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

doi:10.1016/j.eplepsyres.2012.04.016

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 journal › Article › peer-review

19 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 language	English
Pages (from-to)	109-112
Number of pages	4
Journal	Epilepsy Research
Volume	102
Issue number	1-2
DOIs	https://doi.org/10.1016/j.eplepsyres.2012.04.016
Publication status	Published - Nov 2012

Keywords

Acute encephalopathy
Missense mutation
Voltage-gated sodium channel

ASJC Scopus subject areas

Neurology
Clinical Neurology

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title = "Acute encephalopathy with a novel point mutation in the SCN2A gene",

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.",

keywords = "Acute encephalopathy, Missense mutation, Voltage-gated sodium channel",

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AU - Kobayashi, Katsuhiro

AU - Ohzono, Hiroki

AU - Shinohara, Mayu

AU - Saitoh, Makiko

AU - Ohmori, Iori

AU - Ohtsuka, Yoko

AU - Mizuguchi, Masashi

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AB - 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.

KW - Acute encephalopathy

KW - Missense mutation

KW - Voltage-gated sodium channel

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