| abstract |
An isolated DNA molecule encoding a mutant beta-subunit of a mammalian nicotinic acetylcholine receptor ( nAchR ) is described wherein a mutation event selected from a point mutation, deletion, insertion and rearrangements has occurred in the nucleotides encoding the M2 domain of the beta-subunit of the receptor. The mutation event disrupts the functioning of an assembled mammalian nicotinic acetylcholine receptor comprising the beta subunit so as to produce an epilepsy phenotype. Preferably the mutation is a G to A nucleotide transition at base 1025 to produce a V287M mutation in the beta-subunit of the encoded protein. Polypeptide, antibodies, methods and uses for treating and diagnosing epilepsy are described. |