Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.
Generalized epilepsy with febrile seizures plus (GEFS(+)) is an important childhood genetic epilepsy syndrome with heterogeneous phenotypes, including febrile seizures (FS) and generalized epilepsies of variable severity. Forty unrelated GEFS(+) and FS patients were screened for mutations in the sodium channel beta-subunits SCN1B and SCN2B, and the second GEFS(+) family with an SCN1B mutation is described here. The family had 19 affected individuals: 16 with typical GEFS(+) phenotypes and three with other epilepsy phenotypes. Site-specific mutation within SCN1B remains a rare cause of GEFS(+), and the authors found no evidence to implicate SCN2B in this syndrome.
Wallace
R H
RH
Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, Australia. robyn.wallace@adelaide.edu.au
Scheffer
I E
IE
Parasivam
G
G
Barnett
S
S
Wallace
G B
GB
Sutherland
G R
GR
Berkovic
S F
SF
Mulley
J C
JC
D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D004829:Epilepsy, Generalized / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005820:Genetic Testing; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D021122:Protein Subunits; D011793:Queensland / Q000453:epidemiology; D003294:Seizures, Febrile / Q000453:epidemiology / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*; D062548:Voltage-Gated Sodium Channel beta-2 Subunit
D005819:Genetic Markers; D009419:Nerve Tissue Proteins; D021122:Protein Subunits; C117620:SCN2B protein, human; D015222:Sodium Channels; D062548:Voltage-Gated Sodium Channel beta-2 Subunit