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Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.

Authors
  • Stogmann, E
  • Lichtner, P
  • Baumgartner, C
  • Bonelli, S
  • Assem-Hilger, E
  • Leutmezer, F
  • Schmied, M
  • Hotzy, C
  • Strom, T M
  • Meitinger, T
  • Zimprich, F
  • Zimprich, A
Type
Published Article
Journal
Neurology
Publisher
Ovid Technologies (Wolters Kluwer) - American Academy of Neurology
Publication Date
Dec 12, 2006
Volume
67
Issue
11
Pages
2029–2031
Identifiers
PMID: 17159113
Source
Medline
License
Unknown

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.

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