Epilepsie en het SCN1A-gen

Mutations in the voltage-gated sodium channel subunit gene, SCN1A, are identified predominantly in patients with severe myoclonic epilepsy of infancy (SMEI) and in families with generalized epilepsy with febrile seizures plus (GEFS+). Patients with SMEI have predominantly truncating mutations or missense mutations in functionally important segments of the ion channel. In GEFS+ families predominantly missense mutations are found. The finding of a pathogenic SCN1A mutation may have consequences for the anti-epileptic treatment, helps to avoid further diagnostic procedures and provides information on the recurrence risk for siblings and other relatives.