1. Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.
- Author
-
Selmer KK, Egeland T, Solaas MH, Nakken KO, Kjeldsen MJ, Friis ML, Brandal K, Corey LA, and Undlien DE
- Subjects
- Chromosome Disorders genetics, Chromosome Mapping, DNA Mutational Analysis, Denmark, Epilepsy, Generalized metabolism, Epilepsy, Generalized physiopathology, Female, Gene Frequency genetics, Genes, Dominant genetics, Genetic Markers genetics, Genetic Testing, Genotype, Humans, Inheritance Patterns genetics, Male, NAV1.1 Voltage-Gated Sodium Channel, Nerve Tissue Proteins genetics, Norway, Protein Subunits genetics, Receptors, GABA-A genetics, Scandinavian and Nordic Countries, Seizures, Febrile metabolism, Seizures, Febrile physiopathology, Sodium Channels genetics, Voltage-Gated Sodium Channel beta-1 Subunit, Epilepsy, Generalized genetics, Genetic Predisposition to Disease genetics, Ion Channels genetics, Mutation genetics, Seizures, Febrile genetics
- Abstract
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.
- Published
- 2008
- Full Text
- View/download PDF