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Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A.

Abstract:

An intronic polymorphism in the SCN1A gene, which encodes a neuronal sodium-channel alpha subunit, has been previously associated with the dosing of two commonly used antiepileptic drugs that elicit their pharmacologic action primarily at this ion-channel subunit. This study sought to characterize the functional effects of this polymorphism on alternative splicing of SCN1A and to explore the potential for modulating the drug response in the pharmacologically unfavorable genotype by identifica...

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Publisher copy:
10.1086/516650

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Role:
Author
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Journal:
American journal of human genetics
Volume:
80
Issue:
5
Pages:
876-883
Publication date:
2007-05-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:cfce077c-5f56-434a-8cda-4e7fad3d5871
Source identifiers:
461734
Local pid:
pubs:461734

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