Lack of SCN1A mutations in familial febrile seizures.
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.
Malacarne
Michela
M
Laboratory of Human Genetics, E.O. Ospedali Galliera, Genova, Italy.
Madia
Francesca
F
Gennaro
Elena
E
Vacca
Daniela
D
Güney
A Ilter
AI
Buono
Salvatore
S
Bernardina
Bernardo Dalla
BD
Gaggero
Roberto
R
Gobbi
Giuseppe
G
Lispi
Maria Luisa
ML
Malamaci
Daniela
D
Melideo
Giustino
G
Roccella
Maurizio
M
Sferro
Caterina
C
Tiberti
Alessandra
A
Vanadia
Francesca
F
Vigevano
Federico
F
Viri
Franco
F
Vitali
Maria Rosa
MR
Bricarelli
Franca Dagna
FD
Bianchi
Amedeo
A
Zara
Federico
F
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*
D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels