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Nucleic acids encoding sodium channel SCN1A alpha subunit proteins with mutations associated with epilepsy
Nucleic acids encoding sodium channel SCN1A alpha subunit proteins with mutations associated with epilepsy
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机译:编码钠通道SCN1A alpha亚基蛋白且与癫痫相关的突变的核酸
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摘要
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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