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

• Published in: Acta neurologica Scandinavica Vol. 117; no. 4; pp. 289 - 292
• Main Authors: Selmer, K. K., Egeland, T., Solaas, M. H., Nakken, K. O., Kjeldsen, M. J., Friis, M. L., Brandal, K., Corey, L. A., Undlien, D. E.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.04.2008; Blackwell
• Subjects: Biological and medical sciences; Chromosome Disorders - genetics; Chromosome Mapping; Denmark; DNA Mutational Analysis; epilepsy; Epilepsy, Generalized - genetics; Epilepsy, Generalized - metabolism; Epilepsy, Generalized - physiopathology; Errors of metabolism; Female; GEFS; Gene Frequency - genetics; Genes, Dominant - genetics; Genetic Markers - genetics; Genetic Predisposition to Disease - genetics; Genetic Testing; genetics; Genotype; Humans; Inheritance Patterns - genetics; Ion Channels - genetics; Lipids (lysosomal enzyme disorders, storage diseases); Male; Medical sciences; Metabolic diseases; mutation; Mutation - genetics; NAV1.1 Voltage-Gated Sodium Channel; Nerve Tissue Proteins - genetics; Neurology; Norway; Protein Subunits - genetics; Receptors, GABA-A - genetics; Scandinavian and Nordic Countries; Seizures, Febrile - genetics; Seizures, Febrile - metabolism; Seizures, Febrile - physiopathology; Sodium Channels - genetics; Voltage-Gated Sodium Channel beta-1 Subunit; Denmark; Norway; Scandinavian and Nordic Countries; Screening; Nervous system diseases; Epilepsy; Central nervous system disease; Genetics; GEFS; Mutation; Neurological disorder; Febrile convulsion; Medical screening; Cerebral disorder
• ISSN: 0001-6314; 1600-0404
• DOI: 10.1111/j.1600-0404.2007.00941.x

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.