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Epilepsia. 2002 May;43(5):559-62.

Lack of SCN1A mutations in familial febrile seizures.

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1
Laboratory of Human Genetics, E.O. Ospedali Galliera, Genova, Italy.

Abstract

PURPOSE:

Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS+) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs.

METHODS:

FS families were selected throughout a collaborative study of the Italian League Against Epilepsy. For each index case, the entire coding region of SCN1A was screened by denaturant high-performance liquid chromatography. DNA fragments showing variant chromatograms were subsequently sequenced.

RESULTS:

Thirty-two FS families accounting for 91 affected individuals were ascertained. Mutational analysis detected a single coding variant (A3169G) on exon 16. The extended analysis of all family members and 78 normal controls demonstrated that A3169G did not contribute to the FS phenotype.

CONCLUSIONS:

Our study demonstrated that SCN1A is not frequently involved in common FSs and suggested the involvement of specific FS genes.

PMID:
12027919
[Indexed for MEDLINE]
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