Lack of SCN1A Mutations in Familial Febrile Seizures

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...

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Published in:	Epilepsia (Copenhagen) Vol. 43; no. 5; pp. 559 - 562
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	Boston, MA, USA Blackwell Science Inc 01-05-2002 Blackwell
Subjects:	Adolescent Adult Biological and medical sciences Child Chromatography, High Pressure Liquid DNA Mutational Analysis Exons - genetics Family Febrile convulsions Female Gene Amplification Genetics Humans Idiopathic epilepsy Ion channels Male Medical sciences Mutation - genetics Mutations NAV1.1 Voltage-Gated Sodium Channel Nerve Tissue Proteins - genetics Nervous system (semeiology, syndromes) Nervous system as a whole Neurology Polymerase Chain Reaction Seizures, Febrile - genetics Sodium Channels - genetics Human Polymerase chain reaction Pathophysiology Genetics Ionic channel Mutation Molecular biology Neurological disorder Febrile convulsion Genetic disease
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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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0013-9580 1528-1167
DOI:	10.1046/j.1528-1157.2002.29301.x