Genes and loci involved in febrile seizures and related epilepsy syndromes

✍ Scribed by Dominique Audenaert; Christine Van Broeckhoven; Peter De Jonghe

• Publisher: John Wiley and Sons
• Year: 2006
• Tongue: English
• Weight: 279 KB
• Volume: 27
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.20279

✦ Synopsis

Epilepsy is a paroxysmal disorder with a cumulative incidence of about 3%. About 13% of patients with epilepsy have a history of febrile seizures (FS). Generalized epilepsy with FS plus (GEFS1) is a familial epilepsy syndrome in which patients can have classic FS, FS that persist beyond the age of 5 years (i.e., FS1), and/or epilepsy. Both genetic and environmental factors have been shown to contribute to the pathogenesis of FS and GEFS1. During the past 10 years, molecular genetic studies have contributed a great deal to the identification of genetic factors involved in FS and GEFS1. In this study we aimed to provide a comprehensive review of currently known genes for FS and GEFS1, and the methods and approaches used to identify them. We also discuss the knowledge we currently have and hypotheses regarding the effect of the mutations on their respective protein functions. Hum Mutat 27(5), 391-401, 2006. r