title: Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
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.
authors.affiliation: Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Australia.
authors.forename: Angelique E J
authors.initials: AE
authors.lastname: Sijben
authors.forename: Pasiri
authors.initials: P
authors.lastname: Sithinamsuwan
authors.forename: Ashalata
authors.initials: A
authors.lastname: Radhakrishnan
authors.forename: Radwa A B
authors.initials: RA
authors.lastname: Badawy
authors.forename: Leanne
authors.initials: L
authors.lastname: Dibbens
authors.forename: Aziz
authors.initials: A
authors.lastname: Mazarib
authors.forename: Dorit
authors.initials: D
authors.lastname: Lev
authors.forename: Tally
authors.initials: T
authors.lastname: Lerman-Sagie
authors.forename: Rachel
authors.initials: R
authors.lastname: Straussberg
authors.forename: Samuel F
authors.initials: SF
authors.lastname: Berkovic
authors.forename: Ingrid E
authors.initials: IE
authors.lastname: Scheffer
mesh_terms: 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
chemical_list: 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