Nucleic acid encoding SCN1A variant

US7989182B2 · kind B2 · utility

Assignee

• Bionomics Limited · AU

Inventors

• John Charles Mulley · Adelaide, AU
• Louise Anne Harkin · Adelaide, AU
• Leanne Michelle Dibbens · Adelaide, AU
• Robyn Heather Wallace · Brisbane, AU
• Hilary Anne Phillips · McLaren Vale, AU
• Sarah Elizabeth Heron · Highbury, AU
• Samuel Frank Berkovic · Melbourne, AU
• Ingrid Eileen Scheffer · Goornong, AU

Key dates

• Filing date: Jan 29, 2010
• Grant date: Aug 2, 2011
• Expiry date: Jan 29, 2030

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12Q2600/156
• WIPO field: Pharmaceuticals
• WIPO sector: Chemistry

Abstract

A method of identifying a subject predisposed to a disorder associated with ion channel dysfunction, comprising ascertaining whether at least one of the genes encoding ion channel subunits in said subject has undergone a mutation event such that a cDNA derived from said subject has the sequence set forth in one of SEQ ID NOS: 1-134.