title: Lack of SCN1A mutations in familial febrile seizures.
abstract: OBJECTIVE
  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.
authors.affiliation: Laboratory of Human Genetics, E.O. Ospedali Galliera, Genova, Italy.
authors.forename: Michela
authors.initials: M
authors.lastname: Malacarne
authors.forename: Francesca
authors.initials: F
authors.lastname: Madia
authors.forename: Elena
authors.initials: E
authors.lastname: Gennaro
authors.forename: Daniela
authors.initials: D
authors.lastname: Vacca
authors.forename: A Ilter
authors.initials: AI
authors.lastname: Güney
authors.forename: Salvatore
authors.initials: S
authors.lastname: Buono
authors.forename: Bernardo Dalla
authors.initials: BD
authors.lastname: Bernardina
authors.forename: Roberto
authors.initials: R
authors.lastname: Gaggero
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Gobbi
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Lispi
authors.forename: Daniela
authors.initials: D
authors.lastname: Malamaci
authors.forename: Giustino
authors.initials: G
authors.lastname: Melideo
authors.forename: Maurizio
authors.initials: M
authors.lastname: Roccella
authors.forename: Caterina
authors.initials: C
authors.lastname: Sferro
authors.forename: Alessandra
authors.initials: A
authors.lastname: Tiberti
authors.forename: Francesca
authors.initials: F
authors.lastname: Vanadia
authors.forename: Federico
authors.initials: F
authors.lastname: Vigevano
authors.forename: Franco
authors.initials: F
authors.lastname: Viri
authors.forename: Maria Rosa
authors.initials: MR
authors.lastname: Vitali
authors.forename: Franca Dagna
authors.initials: FD
authors.lastname: Bricarelli
authors.forename: Amedeo
authors.initials: A
authors.lastname: Bianchi
authors.forename: Federico
authors.initials: F
authors.lastname: Zara
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005190:Family; D005260:Female; D005784:Gene Amplification; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D003294:Seizures, Febrile / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels