Journal
ACTA NEUROLOGICA SCANDINAVICA
Volume 117, Issue 4, Pages 289-292Publisher
WILEY
DOI: 10.1111/j.1600-0404.2007.00941.x
Keywords
epilepsy; genetics; GEFS; mutation
Categories
Funding
- NINDS NIH HHS [NS31564] Funding Source: Medline
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [R01NS031564] Funding Source: NIH RePORTER
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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.
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