generalized epilepsy with febrile seizures plusとは 意味・読み方・使い方

Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where afflicted individuals can exhibit numerous epilepsy phenotypes. GEFS+ can persist beyond early childhood (i.e., 6 years of age). GEFS+ is also now believed to encompass three other epilepsy disorders: severe myoclonic epilepsy of infancy (SMEI), which is also known as Dravet's syndrome, borderline SMEI (SMEB), and intractable epilepsy of childhood (IEC). There are at least five types of GEFS+, delineated by their causative gene. Known causative genes are the sodium channel α subunit genes SCN1A and SCN2A, an associated β subunit SCN1B, and a GABAA receptor γ subunit gene, GABRG2. Penetrance for this disorder is estimated at approximately 60%.