genetic epilepsy with febrile seizures plus spectrum
A neonatal/infantile-onset self-limited familial syndrome characterized by the presence of febrile seizures in an individual with a family history of seizures/epilepsy. Febrile seizures may be typical febrile seizures or 'febrile seizures plus' (FS+) may occur, where febrile seizures continue past 6 years of age and/or are accompanied by afebrile seizures which may be generalized or focal. FS+ and GEFS+ are distinguished on the basis of family history. A number of dominantly inherited genes have been linked to both GEFS+ and FS+, with implications for specific genetic counselling, due to the variable severity of the epilepsy in different family members. Although febrile seizures are the hallmark of this familial syndrome, not all individuals in a family may have these.
MONDO:0800488
neonatal/infantile-onset self-limited epilepsy syndrome
is_a
GEFS+
exact