Genetic Epilepsy with Febrile Seizures Plus

Abstract

Genetic epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant seizure disorder inherited with incomplete penetrance. It is clinically identified by association with febrile seizures. Patients with GEFS+ present with a wide range of epilepsy phenotypes including febrile seizures extending beyond age 6 including afebrile generalized tonic-clonic seizures, though myoclonic, absence, and drop attacks (tonic/atonic) seizures may co-exist. Febrile seizures become noted typically in the first year of life, are often multiple, and may continue beyond 6 years. Gene mutations are primarily identified in up to one-third of patients including defects in the sodium and gamma-amino butyric acid channels (SCN1B, SCN1A, and GABRG2) with linkage to multiple loci reflecting genetic heterogeneity. MRI brain is usually normal, and EEG has a normal background with generalized interictal epileptiform discharges. Broad-spectrum antiseizure medication is used for afebrile generalized seizures. The prognosis like the phenotype is variable.