Premium
Lack of SCN1A Mutations in Familial Febrile Seizures
Author(s) -
Malacarne Michela,
Madia Francesca,
Gennaro Elena,
Vacca Daniela,
Güney A. Ilter,
Buono Salvatore,
Bernardina Bernardo Dalla,
Gaggero Roberto,
Gobbi Giuseppe,
Lispi Maria Luisa,
Malamaci Daniela,
Melideo Giustino,
Roccella Maurizio,
Sferro Caterina,
Tiberti Alessandra,
Vanadia Francesca,
Vigevano Federico,
Viri Franco,
Vitali Maria Rosa,
Bricarelli Franca Dagna,
Bianchi Amedeo,
Zara Federico
Publication year - 2002
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1046/j.1528-1157.2002.29301.x
Subject(s) - epilepsy , medicine , mutation , pediatrics , genetics , psychiatry , biology , gene
Summary: 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.