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Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
Author(s) -
Sijben Angelique E. J.,
Sithinamsuwan Pasiri,
Radhakrishnan Ashalata,
Badawy Radwa A. B.,
Dibbens Leanne,
Mazarib Aziz,
Lev Dorit,
LermanSagie Tally,
Straussberg Rachel,
Berkovic Samuel F.,
Scheffer Ingrid E.
Publication year - 2009
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1167.2009.02023.x
Subject(s) - dravet syndrome , febrile seizure , epilepsy , pediatrics , medicine , epilepsy syndromes , age of onset , mutation , population , generalized epilepsy , abnormality , genetics , gene , biology , psychiatry , disease , environmental health
Summary 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.