SODIUM-CHANNEL ALPHA1-SUBUNIT AND THEIR POLYPEPTIDES AND THEIR TREATMENT OF GENERALISED EPILEPSY WITH FEBRILE SEIZURES PLUS

摘要

Mutations D188V, V1353L, I1656M in the neuronal gene sodium-channel alpha1-subunit, SCN1A, are disclosed. Methods of using their associated polypeptides for treating sodium channel dysfunction disorders including generalised epilepsy are also disclosed.