Journal article
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS ?
AEJ Sijben, P Sithinamsuwan, A Radhakrishnan, RAB Badawy, L Dibbens, A Mazarib, D Lev, T Lerman-Sagie, R Straussberg, SF Berkovic, IE Scheffer
Epilepsia | Published : 2009
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. Thi..
View full abstractGrants
Funding Acknowledgements
[ "We thank the families who have participated in our research. Dr Sijben was supported by Nationaal Epilepsie Fonds of The Netherlands. Dr Sithinamsuwan was supported by funding from Phramongkutklao Hospital, Royal Thai Army. Support was also obtained from the National Health and Medical Research Council of Australia.", "We confirm that we have read the journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.", "Disclosure: None of the authors has any conflict of interest to disclose." ]