A patient with a pathogenic variant in SCN1A may develop febrile seizures.
SCN1A is sodium channel protein type 1 subunit alpha which is at at 2q24.3
Clinical features:
(1) febrile seizures (with body temperature > 38°C)
(2) non-febrile seizure disorder (generalized; severe myoclonic; intractable)
(3) family history of a seizure disorder
The febrile seizures may:
(1) range from simple to complex
(2) show "plus" features (presence after 5 years of age; unusual severity; presence of afebrile seizures)
(3) be triggered by vaccination or environmental stimuli
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Specialty: Pedatrics, Neurology
