Genome-wide identification of febrile seizure and related epilepsy phenotype loci

抄録

Febrile seizure (FS), autosomal dominant epilepsy with FS plus (ADEFS+), and severe myoclonic epilepsy of infancy (SMEI) are all triggered by high fever at the onset of disorder, but are clinically distinct from each other. Although various identified gene mutations account for approximately 15% of families with ADEFS+ and 80% of patients with SMEI, the responsible gene for FS is essentially unknown. The present study was conducted to identify the loci associated with the risk of these 3 disorders. Among 154 patients (77 with SMEI, 34 with ADEFS+ and 43 with FS), we found 21, 24 and 27 novel susceptibility loci associated with the three diseases, respectively. This is the first phase of a two-part study on the genetic risk profile for fever-related seizure disorders.