Diagnostic markers for multiple epilepsy phenotypes
AssigneeThe Trustees of the University of Pennsylvania
InventorWade H. Berrettini
Life of this patent
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Abstract
A mammalian KIR 4.1 gene and gene products which are predictive of a susceptibility or predisposition to neurological disorders such as multiple epilepsy phenotypes are provided. Methods of predicting an individual's susceptibility in developing or having a neurological disorder via detection of these diagnostic markers are also provided. In addition, compositions and methods for identifying compositions for use in the treatment of neurological disorders via these genes and gene products are described.
Claims1
A diagnostic marker for predicting susceptibility of an individual to having or developing idiopathic generalized epilepsy, juvenile absence epilepsy, childhood absence epilepsy, or temporal lobe epilepsy comprising an isolated human KIR 4.1 nucleic acid molecule of SEQ ID NO:1 or a human KIR 4.1 polypeptide of SEQ ID NO:2, wherein the thymine at position 1037 of the human KIR 4.1 nucleic acid molecule of SEQ ID NO:1 is replaced with cytosine, or the cysteine at position 271 of the human KIR 4.1 polypeptide of SEQ ID NO:2 is replaced with an arginine.
Dependencies are inferred from the claim text.