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|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 M;Mazarib, Aziz;Lev, Dorit;Lerman-Sagie, Tally;Straussberg, Rachel;Berkovic, Samuel F;Scheffer, Ingrid E|
|Affiliation:||Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Australia.|
|Citation:||Epilepsia 2009; 50(4): 953-6|
|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.|
|Internal ID Number:||19292758|
|Subjects:||Age of Onset|
DNA Mutational Analysis.methods
NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins.genetics
|Appears in Collections:||Journal articles|
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