Invention Grant
US07655460B2 Nucleic acids encoding sodium channel SCN1A alpha subunit proteins with mutations associated with epilepsy
有权
编码具有与癫痫相关突变的钠通道SCN1Aα亚基蛋白的核酸
- Patent Title: Nucleic acids encoding sodium channel SCN1A alpha subunit proteins with mutations associated with epilepsy
- Patent Title (中): 编码具有与癫痫相关突变的钠通道SCN1Aα亚基蛋白的核酸
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Application No.: US10664423Application Date: 2003-09-17
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Publication No.: US07655460B2Publication Date: 2010-02-02
- Inventor: Guy A. Rouleau , Ronald G. Lafrenière , Daniel Rochefort
- Applicant: Guy A. Rouleau , Ronald G. Lafrenière , Daniel Rochefort
- Applicant Address: CA Montreal, Quebec
- Assignee: McGill University
- Current Assignee: McGill University
- Current Assignee Address: CA Montreal, Quebec
- Agency: Fulbright & Jaworski L.L.P.
- Main IPC: C12N5/10
- IPC: C12N5/10 ; C12N15/12 ; C07H21/04
Abstract:
The present invention relates to epilepsy. More particularly, the present invention relates to idiopathic generalized epilepsy (IGE) and to the identification of three genes mapping to chromosome 2, which show mutations in patients with epilepsy. The invention further relates to nucleic acid sequences, and protein sequences of these loci (SCNA) and to the use thereof to assess, diagnose, prognose or treat epilepsy, to predict an epileptic individual's response to medication and to identify agents which modulate the function of the SCNA. The invention also provides screening assays using SCN1A, SCN2A and/or SCN3A which can identify compounds which have therapeutic benefit for epilepsy and related neurological disorders.
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