Publication:
Lack of SCN1A mutations in familial febrile seizures

Thumbnail Image

Files

Malacarne et al. - 2002 - Lack of SCN1A Mutations in Familial Febrile Seizur.pdf (121.75 KB)

Date

2002-05-24

Authors

Journal Title

Journal ISSN

Volume Title

Publisher

BLACKWELL PUBLISHING INC

Research Projects

Organizational Units

Journal Issue

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.

Description

Keywords

febrile convulsions, idiopathic epilepsy, ion channels, genetics, mutations, GENERALIZED EPILEPSY, SODIUM-CHANNEL, GENE, CONVULSIONS, GAMMA-2-SUBUNIT, DYSFUNCTION, PLUS

Citation

URI

https://hdl.handle.net/11424/245749

Collections

Research Outputs