Mutation associated with epilepsy

Abstract

An isolated mammalian DNA molecule encoding a mutant γ-aminobutyric acid type A (GABA A ) 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 A receptor, or an otherwise functional fragment or homologue thereof.

1 - 107 . (canceled)  
     
     
         108 . A genetically modified non-human animal transformed with an isolated DNA molecule selected from the group consisting of an isolated mammalian DNA molecule encoding a mutant γ-aminobutyric acid type A (GABA A ) 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 A  receptor, or an otherwise functional fragment or homologue thereof; and an isolated mammalian DNA molecule encoding a mutant γ-aminobutyric acid type A (GABA A ) receptor subunit, wherein a mutation event creates a phenotype of epilepsy and/or anxiety and/or manic depression and/or phobic obsessive symptoms and/or Alzheimer's disease and/or schizophrenia and/or migraine and/or obesity.  
     
     
         109 . A genetically modified non-human animal as claimed in  claim 108  in which the animal is selected from the group consisting of rats, mice, hamsters, guinea pigs, rabbits, dogs, cats, goats, sheep, pigs and non-human primates such as monkeys and chimpanzees.  
     
     
         110 . A genetically modified non-human as claimed in  claim 109  wherein the animal is a mouse.  
     
     
         111 . A method of screening candidate pharmaceutical compounds, the method comprising administering a candidate pharmaceutical compound to a genetically modified non-human animal as claimed in  claim 108;  and screening the candidate pharmaceutical compound for an effect thereon.