Understanding the pathology of juvenile myoclonic epilepsy (JME) using Ehhc1-deficient mouse

• Project/Area Number: 20790866
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Psychiatric science
• Research Institution: The Institute of Physical and Chemical Research
• Principal Investigator: SUZUKI Toshimitsu The Institute of Physical and Chemical Research, 神経遺伝研究チーム, 研究員 (20373318)
• Project Period (FY): 2008 – 2009
• Project Status: Completed (Fiscal Year 2009)
• Budget Amount: ¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000); Fiscal Year 2009: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2008: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
• Keywords: てんかん / EFHC1 / 痙攣 / 若年性ミオクローヌスてんかん / 特発性てんかん / マウスモデル / 若年性ミオクロニーてんかん / JME / ミオクロニー発作 / 痙攣感受性 / 脳室拡大

Research Abstract

We observed frequent spontaneous myoclonus and increased seizure susceptibility in mice with Efhc1 deficiency. These results suggest that reduction or loss of function of myoclonin1 may be the molecular basis for epilepsies caused by EFHC1 mutations.

Research Products

• [Journal Article] Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility (2009)
  • Author(s): Toshimitsu Suzuki, Hiroyuki Miyamoto, Takashi Nakahari, Ikuyo Inoue, Takahiro Suemoto, Bin Jiang, Yuki Hirota, Shigeyoshi Itohara, Takaomi C. Saido, Tadaharu Tsumoto, Kazunobu Sawamoto, Takao K. Hensch, Antonio V. Delgado-Escueta, Kazuhiro Yamakawa
  • Journal Title: Human Molecular Genetics 18 Pages: 1099-1109
  • Peer Reviewed
• [Journal Article] Efhcl deficiency causes spontaneous myoclonus and increased seizure susceptibility
  • Author(s): Toshimitsu Suzuki
  • Journal Title: Human Molecular Genetics (in press)
  • Peer Reviewed
• [Presentation] Mice lacking epilepsy gene, Efhc1, cause spontaneous myoclonus (2009)
  • Author(s): 鈴木俊光
  • Organizer: annual meeting of the Society for Neuroscience
  • Place of Presentation: Washington, DC, USA
  • Year and Date: 2009-11-15
• [Presentation] Efhc1変異マウスで頻出する自然誘発ミオクローヌス (2009)
  • Author(s): 鈴木俊光
  • Organizer: 日本てんかん学会
  • Place of Presentation: 東京
  • Year and Date: 2009-10-18
• [Presentation] Efhc1欠損マウスにおける痙攣閾値の低下 (2009)
  • Author(s): 鈴木俊光
  • Organizer: 日本神経科学会
  • Place of Presentation: 東京
  • Year and Date: 2009-07-09
• [Presentation] Mice lacking epilepsy gene, Efhc1, cause spontaneous myoclonus (2008)
  • Author(s): Toshimitsu Suzuki
  • Organizer: annual meeting of the Society for Neuroscience
  • Place of Presentation: Washington, DC
  • Year and Date: 2008-11-15
• [Presentation] Efhc1変異マウスで頻出する自然誘発ミオクローヌス (2008)
  • Author(s): Toshimitsu Suzuki
  • Organizer: 日本てんかん学会
  • Place of Presentation: 東京
  • Year and Date: 2008-10-18
• [Presentation] Efhc1欠損マウスにおける痙攣閾値の低下 (2008)
  • Author(s): Toshimitsu Suzuki
  • Organizer: 日本神経科学会
  • Place of Presentation: 東京
  • Year and Date: 2008-07-09