A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures.

doi:10.1212/01.wnl.0000344401.02915.00

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Article

A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures.

Neurology - 17 Mar 2009

Schlachter K, Gruber-Sedlmayr U, Stogmann E, Lausecker M, Hotzy C, Balzar J, Schuh E, Baumgartner C, Mueller J C, Illig T, Wichmann H E, Lichtner P, Meitinger T, Strom T M, Zimprich A, Zimprich F

Abstract excerpt

OBJECTIVE: Our aim was to investigate whether the risk of febrile seizures is influenced by a common functional polymorphism in the sodium channel gene SCN1A. This single nucleotide polymorphism (IVS5N+5 G>A, rs3812718) was shown to modify the proportion of two alternative transcripts of the channel. METHODS: We performed an exploratory case-control association analysis in 90 adult epilepsy patients with...

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PMID: 19289736
DOI: 10.1212/01.wnl.0000344401.02915.00

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