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Title:

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

Document type:
Journal Article; Research Support, Non-U.S. Gov't
Author(s):
Schlachter, K; Gruber-Sedlmayr, U; Stogmann, E; Lausecker, M; Hotzy, C; Balzar, J; Schuh, E; Baumgartner, C; Mueller, JC; Illig, T; Wichmann, HE; Lichtner, P; Meitinger, T; Strom, TM; Zimprich, A; Zimprich, F
Abstract:
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 childhood febrile seizures vs 486 epilepsy patients without a history of febrile seizures an...     »
Journal title abbreviation:
Neurology
Year:
2009
Journal volume:
72
Journal issue:
11
Pages contribution:
974-8
Language:
eng
Fulltext / DOI:
doi:10.1212/01.wnl.0000344401.02915.00
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/19289736
Print-ISSN:
0028-3878
TUM Institution:
Institut für Humangenetik
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