Nucleic acid encoding SCN1A variant

Nucleic acid encoding SCN1A variant

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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Mulley, John Charles, Harkin, Louise Anne, Dibbens, Leanne Michelle, Wallace, Robyn Heather, Phillips, Hilary Anne, Heron, Sarah Elizabeth, Berkovic, Samuel Frank, Scheffer, Ingrid Eileen
Format: Patent
Sprache:eng
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Zusammenfassung: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.