Mutations in ion channels
AssigneeBionomics Limited
InventorsJohn Charles Mulley, Louise Anne Harkin, Leanne Michelle Dibbens, Robyn Heather Wallace, Hilary Anne Phillips, Sarah Elizabeth Heron, Samuel Frank Berkovic, Ingrid Eileen Scheffer
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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.
Claims7
An isolated nucleic acid molecule encoding a mutant or variant ion channel subunit wherein a mutation event has occurred such that a cDNA derived therefrom has the sequence of SEQ ID NO.:
- 1.
An isolated nucleic acid molecule comprising the nucleotide sequence of SEQ ID NO.:
- 1.
An isolated nucleic acid molecule consisting of the nucleotide sequence of SEQ ID NO.:
- 1.
Dependencies are inferred from the claim text.