Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+

K K Selmer, T Egeland, M H Solaas, K O Nakken, Marianne Juel Kjeldsen, M L Friis, K Brandal, L A Corey, D E Undlien

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Abstrakt

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. Material and 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. Conclusion - This suggests that mutations in these three genes are not a prevalent cause of familial cases of FS and epilepsy or GEFS+ in Scandinavia.
OriginalsprogEngelsk
TidsskriftActa Neurologica Scandinavica
Vol/bind117
Udgave nummer4
Sider (fra-til)289 - 292
ISSN0001-6314
DOI
StatusUdgivet - 2008

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