Genetic analyses and generation of genetic engineered animals for childhood epilepsy focusing on ion channel abnormalities

2008 Fiscal Year Self-evaluation Report

• Project/Area Number: 18209035
• Research Category: Grant-in-Aid for Scientific Research (A)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Fukuoka University
• Principal Investigator: HIROSE Shinichi Fukuoka University, 医学部, 教授 (60248515)
• Project Period (FY): 2006 – 2008
• Keywords: 小児神経学

Research Abstract

I.てんかんの原因となる新規遺伝子変異の同定てんかん遺伝子バンクの資料をもとに、てんかんの責任遺伝子を同定する
II.遺伝子改変動物の作出見出された遺伝子変異を有するモデル動物を作出し、その分子病態を明らかにする。

Research Products

• [Journal Article] de novo KCNQ2 mutation detected innon-familial benign neonatal convulsions (2009)
  • Author(s): Ishii A, Fukuma G, Uehara A, Miyajima T, MakitaY, Hamachi A, Yasukochi M, Inoue T, Yasumoto S,Okada M, Kaneko S, Mitsudome A, Hirose S
  • Journal Title: BrainDev 31(1) Pages: 27-33
• [Journal Article] Lack of potassiumcurrent in W309R mutant KCNQ3 channelcausing benign familial neonatalconvulsions (BFNC) (2009)
  • Author(s): Sugiura Y, Nakatsu F, Hiroyasu K, Ishii A, Hirose S, Okada M, Jibiki I, Ohno H,Kaneko S, Ugawa Y
  • Journal Title: Epilepsy Res 84(1) Pages: 82-5
• [Journal Article] Microchromosomal deletions involvingSCN1A and adjacent genes in severe myoclonicepilepsy in infancy (2008)
  • Author(s): Wang JW, Kurahashi H, Ishii A, Kojima T, OhfuM, Inoue T, Ogawa A, Yasumoto S, Oguni H,Kure S, Fujii T, Ito M, Okuno T, Shirasaka Y,Natsume J, Hasegawa A, Konagaya A, Kaneko S,Hirose S
  • Journal Title: Epilepsia 49(9) Pages: 1528-34
• [Journal Article] Rats Harboring S284LChrna4 Mutation Show Attenuation of Synapticand Extrasynaptic GABAergic Transmission and Exhibit the Nocturnal Frontal Lobe Epilepsy Phenotype (2008)
  • Author(s): Zhu G, Okada M, Yoshida S, Ueno S, Mori F, Takahara T, Saito R, Miura Y, Kishi A, TomiyamaM, Sato A, Kojima T, Fukuma G, Wakabayashi K,Hase K, Ohno H, Kijima H, Takano Y, MitsudomeA, Kaneko S, Hirose S
  • Journal Title: J Neurosci 28(47) Pages: 12465-76
• [Journal Article] A new paradigm of channelopathy inepilepsy syndromes : intracellular traffickingabnormality of channel molecules (2006)
  • Author(s): Hirose S
  • Journal Title: Epilepsy Res 70Suppl 1 Pages: S206-17
• [Presentation] Mutational analysis for repetitive febrile seizuresand sporadic febrile seizures plus in JapaneseHirose, S (2009)
  • Author(s): Hirose S
  • Organizer: 8th European Congress onEpileptology
  • Place of Presentation: Berlin
  • Year and Date: 20090918-26
• [Presentation] Update on the genetics of Epilepsy : Potential clinical applications (2008)
  • Author(s): Hirose S
  • Organizer: Annual meeting for Thai Child Neurology Society
  • Place of Presentation: Thailand
  • Year and Date: 20081218-22
• [Presentation] Benign childhood epilepsy with centrotemporalspikes following benign neonatal seizures resultingfrom a mutation of KCNQ2 Hirose, S (2008)
  • Author(s): Hirose S
  • Organizer: 8^<th> European Congress on Epileptology European Congress on Epileptology
  • Place of Presentation: Berlin
  • Year and Date: 20080918-26
• [Presentation] The Application of Genetic Tests for Epilepsy-arethere Guidelines for Clinicians? (2008)
  • Author(s): Hirose S
  • Organizer: 7^<th> Asian &amp; Oceanian Epilepsy Congress Xiamen,China
  • Place of Presentation: Xiamen
  • Year and Date: 20080515-18
• [Presentation] Recent advances in the genetics of epilepsyJoint/Hirose S (2008)
  • Author(s): Hirose S
  • Organizer: 7^<th> Human Genome Organization(HUGO)
  • Place of Presentation: セブ,フィリピン
  • Year and Date: 20080401-07
• [Patent(Industrial Property Rights)] 変異導入遺伝子およびそれを導入したノックイン非ヒト動物 (2008)
  • Inventor(s): 廣瀬伸一, 弟子丸正伸, 荒木喜美
  • Industrial Property Rights Holder: 廣瀬伸一
  • Industrial Property Number: 特許,特願2008-273446
  • Filing Date: 2008-10-23