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Title: Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
Austin 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
Issue Date: 9-Mar-2009
Publication information: 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.
Gov't Doc #: 19292758
DOI: 10.1111/j.1528-1167.2009.02023.x
Type: Journal Article
Subjects: Age of Onset
Child, Preschool
Confidence Intervals
DNA Mutational Analysis.methods
Epilepsy, Generalized.complications.genetics
Family Health
NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins.genetics
Receptors, GABA-A.genetics
Seizures, Febrile.complications.genetics
Sodium Channels.genetics
Statistics, Nonparametric
Appears in Collections:Journal articles

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