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Association between SCN1A polymorphism and carbamazepine-resistant epilepsy

By Tomohide Abe, Takayuki Seo, Takateru Ishitsu, Takehiro Nakagawa, Masaharu Hori and Kazuko Nakagawa


WHAT IS ALREADY KNOWN ABOUT THIS SUBJECTThe SCN1Agene encodes the α subunit of the neuronal voltage-gated sodium channel, which is a target for carbamazepine and other antiepileptic drugs (AEDs).Recent studies have demonstrated that a common polymorphism of SCN1A IVS5-91 G > A was associated with carbamazepine and phenytoin use in daily practice.However, it has not been determined whether the polymorphism affects carbamazepine or other AED responsiveness.WHAT THIS STUDY ADDSThis study demonstrated a significant association between the SCN1A IVS5-91 AA genotype and carbamazepine-resistant epilepsy, while the AA genotype did not affect carbamazepine use

Topics: Short Reports
Publisher: Blackwell Science Inc
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Provided by: PubMed Central
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