We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
- Authors
Sijben, Angelique E. J.; Sithinamsuwan, Pasiri; Radhakrishnan, Ashalata; Badawy, Radwa A. B.; Dibbens, Leanne; Mazarib, Aziz; Lev, Dorit; Lerman-Sagie, Tally; Straussberg, Rachel; Berkovic, Samuel F.; Scheffer, Ingrid E.
- Abstract
SCN1A is the most clinically relevant epilepsy gene and is associated with generalized epilepsy and febrile seizure plus (GEFS+) and Dravet syndrome. We postulated that earlier onset of febrile seizures in the febrile seizure (FS) and febrile seizure plus (FS+) phenotypes may occur in the presence of a SCN1A mutation. This was because of the age-related onset of Dravet syndrome, which typically begins in the first year of life. We found that patients with FS and FS+ with SCN1A mutations had earlier median onset of febrile seizures compared to the population median. Patients with GABRG2 mutations had a similar early onset in contrast to patients with SCN1B mutations where onset was later. This study is the first to demonstrate that a specific genetic abnormality directly influences the FS and FS+ phenotype in terms of age of onset.
- Subjects
FEBRILE seizures; PHENOTYPES; GENETICS of epilepsy; GENETIC mutation; GENETICS
- Publication
Epilepsia (Series 4), 2009, Vol 50, Issue 4, p953
- ISSN
0013-9580
- Publication type
Article
- DOI
10.1111/j.1528-1167.2009.02023.x