Mutations in SCN1A SCN2A SCN3A SCN8A sodium ion channels and their use in diagnosing epilepsy

摘要

Isolated DNA molecules comprising a sequence set forth in SEQ ID NO:1-9 encode mutant sodium channel alpha subunits (SCN1A) having a sequence set forth in SEQ ID NO:135-143 are described. The sequences comprise a mutation event that disrupts the functioning of an assembled ion channel so as to produce an epilepsy phenotype. Polypeptide, antibodies, methods and uses for treating and diagnosing epilepsy are also described.