A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.

Abstract excerpt

We report 2 families harboring a novel SCN1A mutation, one of whom had Panayiotopoulos syndrome and the other a phenotype consistent with generalized epilepsy with febrile seizures plus. Two siblings had recurrent episodes of autonomic status epilepticus with focal features consistent with the diagnosis of Panayiotopoulos syndrome. Both have the SCN1A mutation p.Phe218Leu. The mutation was present in their father...

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