Identification of two principal mutations in ion channels associated with idiopathic generalised epilepsies
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United States of America Patent
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Issued Date -
Aug 21, 2003
app pub date -
Apr 16, 2003
filing date -
Jul 18, 2000
priority date (Note) -
Abandoned
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Abstract
A method for identifying the molecular defects responsible for the idiopathic generalised epilepsies (IGE), comprising the steps of: 1) providing sequence information for ion channel subunits; 2) screening a nucleic acid or peptide isolated from a patient affected by an IGE for molecular defects in the ion channel subunits in order to identify two principal defects associated with the IGE; and 3) correlating the two principal molecular defects identified with clinical observations in order to establish the combination of mutant subunits involved in the IGE.
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