Mutations in ion channels

摘要

Disclosed is an isolated nucleic acid molecule encoding a mutant or variant ion channel subunit wherein a mutation event has occurred such that a cDNA derived therefrom has the sequence set forth in one of SEQ ID NOS: 53-63. The sequences comprise a mutation event that disrupts the functioning of an assembled ion channel so as to produce an epilepsy or other disorder phenotype. Polypeptides, vectors, transgenic host cells and organisms are also described.