| Literature DB >> 17159113 |
E Stogmann1, P Lichtner, C Baumgartner, S Bonelli, E Assem-Hilger, F Leutmezer, M Schmied, C Hotzy, T M Strom, T Meitinger, F Zimprich, A Zimprich.
Abstract
We sequenced 61 patients with various idiopathic generalized epilepsy (IGE) syndromes for mutations in the EFHC1 gene. We detected three novel heterozygous missense mutations (I174V, C259Y, A394S) and one possibly pathogenic variant in the 3' UTR (2014t>c). The mutation I174V was also detected in 1 of 372 screened patients with temporal lobe epilepsy. We conclude that mutations in the EFHC1 gene may underlie different types of epilepsy syndromes.Entities:
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Year: 2006 PMID： 17159113 DOI： 10.1212/01.wnl.0000250254.67042.1b
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910