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NEUROLOGY 2006;67:2029-2031
© 2006 American Academy of Neurology
Brief Communications

Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations

E. Stogmann, MD, P. Lichtner, PhD, C. Baumgartner, MD, S. Bonelli, MD, E. Assem-Hilger, MD, F. Leutmezer, MD, M. Schmied, MD, C. Hotzy, T. M. Strom, MD, T. Meitinger, MD, F. Zimprich, MD, PhD and A. Zimprich, MD

From the Department of Neurology, Medical University of Vienna, Vienna, Austria (E.S., C.B., S.B., E-A.H., F.L., M.S., C.H., F.Z., A.Z.); Institute of Human Genetics, GSF National Research Centre for Environment and Health, Neuherberg, Germany (P.L., T.M.S., T.M.); and Institute of Human Genetics, Technical University Munich, Munich, Germany (T.M.S., T.M.).

Address correspondence and reprint requests to Alexander Zimprich, Department of Neurology, Medical University of Vienna, Allgemeines Krankenhaus Stadt Wien, Waehringer Guertel 18-20, A-1090 Vienna, Austria; e-mail: alexander.zimprich{at}meduniwien.ac.at

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.

Commentary, see page 1907

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the December 12 issue to find the title link for this article.

Disclosure: The authors report no conflicts of interest.

Received May 15, 2006. Accepted in final form September 18, 2006.


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