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

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 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

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

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, 102(1-2), 109-112. https://doi.org/10.1016/j.eplepsyres.2012.04.016

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 journal › Article

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 K, Ohzono H, Shinohara M, Saitoh M, Ohmori I, Ohtsuka Y et al. Acute encephalopathy with a novel point mutation in the SCN2A gene. Epilepsy Research. 2012 Nov;102(1-2):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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Access to Document

10.1016/j.eplepsyres.2012.04.016