MUTATION ASSOCIATED WITH EPILEPSY

摘要

The present invention concerns an isolated mammalian DNA molecule encoding a mutant ³-aminobutyric acid type A (GABA A ) receptor subunit, wherein a mutation event has occurred and said mutation event disrupts the functioning of an assembled GABA A receptor, or an otherwise functional fragment or homologue thereof. The invention also concerns mutant ³-aminobutyric acid type A (GABA A ) receptor subunits and antibodies against the same. Furthermore the invention concerns the use of such DNA molecules, subunits and antibodies in diagnostic and therapeutic applications.