Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
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.
Sijben
Angelique E J
AE
Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Australia.
Sithinamsuwan
Pasiri
P
Radhakrishnan
Ashalata
A
Badawy
Radwa A B
RA
Dibbens
Leanne
L
Mazarib
Aziz
A
Lev
Dorit
D
Lerman-Sagie
Tally
T
Straussberg
Rachel
R
Berkovic
Samuel F
SF
Scheffer
Ingrid E
IE
D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D016001:Confidence Intervals; D004252:DNA Mutational Analysis / Q000379:methods; D004569:Electroencephalography / Q000379:methods; D004829:Epilepsy, Generalized / Q000150:complications / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011963:Receptors, GABA-A / Q000235:genetics; D003294:Seizures, Febrile / Q000150:complications / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*; D018709:Statistics, Nonparametric
C546279:GABRG2 protein, human; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; D011963:Receptors, GABA-A; C568242:SCN1A protein, human; D015222:Sodium Channels