Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?

2009-03-09

Sijben, Angelique E J

Sithinamsuwan, Pasiri

Radhakrishnan, Ashalata

Badawy, Radwa A B

Dibbens, Leanne M

Mazarib, Aziz

Lev, Dorit

Lerman-Sagie, Tally

Straussberg, Rachel

Berkovic, Samuel F

Scheffer, Ingrid E

Journal Article

10.1111/j.1528-1167.2009.02023.x

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.

link

Epilepsia 2009; 50(4): 953-6

Epilepsia