Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.
BACKGROUND
Mutations in the three genes SCN1A, SCN1B and GABRG2, all encoding subunits of ion channels, have been known to cause generalized epilepsy with febrile seizures plus (GEFS+) in families of different origin.


OBJECTIVE
To study the occurrence of mutations in these genes in families with GEFS+ or a GEFS+ resembling phenotype of Scandinavian origin.


METHODS
We performed linkage analysis in 19 Scandinavian families with a history of febrile seizures (FS) and epilepsy or GEFS+. Where linkage could not be excluded, the genes of interest were sequenced.


RESULTS
We identified only one mutation in SCN1A, which seems to be a rare variant with no functional consequence.


CONCLUSIONS
This suggests that mutations in these three genes are not a prevalent cause of familial cases of FS and epilepsy or GEFS+ in Scandinavia.
Selmer
K K
KK
Institute of Medical Genetics, Faculty Division Ullevål University Hospital, University of Oslo, Oslo, Norway. k.k.selmer@medisin.uio.no
Egeland
T
T
Solaas
M H
MH
Nakken
K O
KO
Kjeldsen
M J
MJ
Friis
M L
ML
Brandal
K
K
Corey
L A
LA
Undlien
D E
DE
D025063:Chromosome Disorders / Q000235:genetics; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D003718:Denmark; D004829:Epilepsy, Generalized / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D007473:Ion Channels / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics; D009664:Norway; D021122:Protein Subunits / Q000235:genetics; D011963:Receptors, GABA-A / Q000235:genetics; D012537:Scandinavian and Nordic Countries; D003294:Seizures, Febrile / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D015222:Sodium Channels / Q000235:genetics; D062547:Voltage-Gated Sodium Channel beta-1 Subunit
C546279:GABRG2 protein, human; D005819:Genetic Markers; D007473:Ion Channels; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; D021122:Protein Subunits; D011963:Receptors, GABA-A; C568242:SCN1A protein, human; C470379:SCN1B protein, human; D015222:Sodium Channels; D062547:Voltage-Gated Sodium Channel beta-1 Subunit