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A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family.

Abstract：

:Generalized epilepsy with febrile seizures plus (GEFS(+)) is a common familial epilepsy syndrome, which generally develops in childhood. GEFS(+) is caused by mutations in the sodium-channel α1-subunit (SCN1A). In this report, we investigated a Chinese family with an autosomal dominant form of GEFS(+). The affected GEFS(+) patients in this family displayed significant inter-family clinical heterogeneity. Linkage analysis localized the disease-causing gene to chromosome 2q24, where SCN1A is located. Furthermore, DNA sequencing of the whole coding region of SCN1A revealed a novel heterozygous nucleotide substitution (c.577C>T) causing a missense mutation (p.L193F) in the S3 segment of SCN1A domain D1. Our results expand the spectrum of SCN1A mutations and provide novel insights between the SCN1A mutations and the clinical variations of GEFS(+).

journal_name

Neurosci Lett

journal_title

Neuroscience letters

authors

Cui X,Zeng F,Liu Y,Zhang J,Archacki S,Zhan T,Du R,Tang Z,Liu J,Wang QK,Liu M

doi

10.1016/j.neulet.2011.08.001

subject

Has Abstract

pub_date

2011-09-26 00:00:00

pages

27-30

issue

1

eissn

0304-3940

issn

1872-7972

pii

S0304-3940(11)01147-5

journal_volume

503

pub_type

杂志文章

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