Mutation associated with epilepsy

US7157569B2 · kind B2 · utility

Assignee

• Bionomics Limited · AU

Inventors

• Robyn Heather Wallace · Brisbane, AU
• John Charles Mulley · Adelaide, AU
• Samuel Frank Berkovic · Melbourne, AU
• Louise Anne Harkin · Adelaide, AU
• Leanne Michelle Dibbens · Adelaide, AU

Key dates

• Filing date: Jun 20, 2001
• Grant date: Jan 2, 2007
• Expiry date: Apr 8, 2022

Classification

• Technology area (CPC G): Physics
• CPC primary: G01N2800/2857
• WIPO field: Measurement
• WIPO sector: Instruments

Abstract

An isolated mammalian DNA molecule encoding a mutant γ-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.