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.

journal_name

Epilepsy Res

journal_title

Epilepsy research

authors

Kobayashi K,Ohzono H,Shinohara M,Saitoh M,Ohmori I,Ohtsuka Y,Mizuguchi M

doi

10.1016/j.eplepsyres.2012.04.016

subject

Has Abstract

pub_date

2012-11-01 00:00:00

pages

109-12

issue

1-2

eissn

0920-1211

issn

1872-6844

pii

S0920-1211(12)00128-3

journal_volume

102

pub_type

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