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Stogmann, E.* ; Lichtner, P. ; Baumgartner, C.* ; Bonelli, S.* ; Assem-Hilger, E.* ; Leutmezer, F.* ; Schmied, M.* ; Hotzy, C.* ; Strom, T.M. ; Meitinger, T. ; Zimprich, F.* ; *

Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.

Neurology 67, 2029-2031 (2006)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
ISSN (print) / ISBN 0028-3878
e-ISSN 1526-632X
Journal Neurology
Quellenangaben Volume: 67, Issue: 11, Pages: 2029-2031 Article Number: , Supplement: ,
Publisher Lippincott Williams & Wilkins
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)