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

Epilepsy Res. 2012 Nov;102(1-2):109-12. doi: 10.1016/j.eplepsyres.2012.04.016. Epub 2012 May 14.

Authors

Katsuhiro Kobayashi¹, Hiroki Ohzono, Mayu Shinohara, Makiko Saitoh, Iori Ohmori, Yoko Ohtsuka, Masashi Mizuguchi

Affiliation

¹ Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Shikatacho 2-5-1, Okayama 700-8558, Japan.

PMID: 22591750
DOI: 10.1016/j.eplepsyres.2012.04.016

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Acute Disease
Adult
Amino Acid Sequence
Brain Diseases / genetics*
Epilepsies, Partial / genetics*
Humans
Male
Molecular Sequence Data
NAV1.2 Voltage-Gated Sodium Channel / chemistry
NAV1.2 Voltage-Gated Sodium Channel / genetics*
Point Mutation / genetics*
Protein Structure, Tertiary
Status Epilepticus / genetics*

Substances

NAV1.2 Voltage-Gated Sodium Channel
SCN2A protein, human