Mutation associated with epilepsy

Details Mutation associated with epilepsy Mutation associated with epilepsy

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) C07K 14/705 (2006.01) C07K 16/28 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 2411756

An isolated mammalian DNA molecule encoding a mutant .gamma.-aminobutyric acid (GABA) receptor subunit, wherein a mutation event selected from the group consisting of point mutations, deletions, insertions and rearrangements has occurred and said mutation event disrupts the functioning of an assembled GABA receptor, or an otherwise functional fragment or homologue thereof.

L'invention porte sur une molécule isolée d'ADN de mammifère codant pour une sous-unité mutante du récepteur du GABA (acide .gamma.- aminobutyrique) dans laquelle s'est produit un événement mutationnel, pouvant être: une mutation ponctuelle, une suppression, une insertion, ou un réarrangement, qui perturbe le fonctionnement d'un récepteur du GABA assemblé, ou de l'un de ses fragments à fonctionnalité différente, ou de l'un de ses homologues.

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