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Human Molecular Genetics Advance Access originally published online on January 15, 2009
Human Molecular Genetics 2009 18(6):1099-1109; doi:10.1093/hmg/ddp006
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© The Author 2009. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility

Toshimitsu Suzuki1,6, Hiroyuki Miyamoto2, Takashi Nakahari7, Ikuyo Inoue1, Takahiro Suemoto3, Bin Jiang4, Yuki Hirota8, Shigeyoshi Itohara5, Takaomi C. Saido3, Tadaharu Tsumoto4, Kazunobu Sawamoto8, Takao K. Hensch2, Antonio V. Delgado-Escueta9 and Kazuhiro Yamakawa1,*

1 Laboratory for Neurogenetics 2 Laboratory for Neuronal Circuit Development 3 Laboratory for Proteolytic Neuroscience 4 Tsumoto Research Unit 5 Laboratory for Behavioral Genetics 6 Special Postdoctoral Researchers Program, RIKEN Brain Science Institute (BSI), 2-1 Hirosawa, Wako-shi, 351-0198 Saitama, Japan 7 Department of Physiology, Osaka Medical College, Osaka 569-8686, Japan 8 Department of Developmental and Regenerative Biology, Institute of Molecular Medicine, Nagoya City University Graduate School of Medical Sciences, Nagoya 467-8601, Japan 9 Epilepsy Genetics/Genomics Laboratories, Comprehensive Epilepsy Program, UCLA Geffen School of Medicine and VA GLAHS-West Los Angeles, Los Angeles, CA 90073, USA

* To whom correspondence should be addressed. Tel: +81 484679703; Fax: +81 484677095; Email: yamakawa{at}brain.riken.jp

Received November 6, 2008; Accepted December 23, 2008

Mutations in EFHC1 gene have been previously reported in patients with epilepsies, including those with juvenile myoclonic epilepsy. Myoclonin1, also known as mRib72-1, is encoded by the mouse Efhc1 gene. Myoclonin1 is dominantly expressed in embryonic choroid plexus, post-natal ependymal cilia, tracheal cilia and sperm flagella. In this study, we generated viable Efhc1-deficient mice. Most of the mice were normal in outward appearance, and both sexes were found to be fertile. However, the ventricles of the brains were significantly enlarged in the null mutants, but not in the heterozygotes. Although the ciliary structure was found intact, the ciliary beating frequency was significantly reduced in null mutants. In adult stages, both the heterozygous and null mutants developed frequent spontaneous myoclonus. Furthermore, the threshold of seizures induced by pentylenetetrazol was significantly reduced in both heterozygous and null mutants. These observations seem to further suggest that decrease or loss of function of myoclonin1 may be the molecular basis for epilepsies caused by EFHC1 mutations.


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