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https://hdl.handle.net/2440/57326
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Type: | Journal article |
Title: | Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+? |
Author: | Sijben, A. Sithinamsuwan, P. Radhakrishnan, A. Badawy, R. Dibbens, L. Mazarib, A. Lev, D. Lerman-Sagie, T. Straussberg, R. Berkovic, S. Scheffer, I. |
Citation: | Epilepsia, 2009; 50(4):953-956 |
Publisher: | Blackwell Publishing Inc |
Issue Date: | 2009 |
ISSN: | 0013-9580 1528-1167 |
Statement of Responsibility: | Angelique E. J. Sijben, Pasiri Sithinamsuwan, Ashalata Radhakrishnan, Radwa A. B. Badawy, Leanne Dibbens, Aziz Mazarib, Dorit Lev, Tally Lerman-Sagie, Rachel Straussberg, Samuel F. Berkovic, and Ingrid E. Scheffer |
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. |
Keywords: | Febrile seizures GEFS+ SCN1A SCN1B GABRG2 Age of onset |
DOI: | 10.1111/j.1528-1167.2009.02023.x |
Published version: | http://dx.doi.org/10.1111/j.1528-1167.2009.02023.x |
Appears in Collections: | Aurora harvest Paediatrics publications |
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