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2002 Fiscal Year Final Research Report Summary

generation of epilepsy model animals harboring the same genetic defects identified in human epilepsy

Research Project

Project/Area Number 12559010
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section展開研究
Research Field 広領域
Research InstitutionFukuoka University

Principal Investigator

HIROSE Shinichi  Fukuoka University, School of Medicine, Assistant professor, 医学部, 助教授 (60248515)

Co-Investigator(Kenkyū-buntansha) KANEKO Sunao  Hirosaki University, School of Medicine, Professor, 医学部, 教授 (40106852)
SUZUKI Tosirou  Japanese SLC, Inc., Section chief (Research work), 受託試験部, 課長(研究職)
MITSUDOME Akihisa  Fukuoka University, School of Medicine, Professor, 医学部, 教授 (30038749)
OKADA Motohiro  Hirosaki University, School of Medicine, Assistant Professor, 医学部, 助教授 (10281916)
Project Period (FY) 2000 – 2002
KeywordsEpilepsy / Channel disease / transgenic animals / febrile seizures / ADNFLE / BFNC / GEFS+
Research Abstract

We have made the following discoveries based on the genetic analyses searching mutations of genes encoding ion channels expressed in the central nerve system. The specimens used were in the bank holding DNA samples obtained from patients with various epilepsy syndrome. Two novel mutations have been identified in the gene encoding a1 subunit of Na+ channel, SCN1A in patients with generalized epilepsy with febrile seizures plus (GEFS+). Furthermore, we found that the gene encoding a2 subunit of Na+ channel, SCN2A is associated with autosomal dominant epilepsy with febrile seizures plus. The mutation result in slow inactivation in the channel function thereby cause hyper inimitability of the channel. Exploiting the above results, we have generated transgenic animals (rats), which harboring the same mutations identified in human epilepsy. One of such animals, that bears a CHRNA4 mutation showed convulsions. Pharmacological and electrophysiological characteristics of the animals are currently investigated.

  • Research Products

    (12 results)

All Other

All Publications (12 results)

  • [Publications] Hirose S., et al.: "The genetics of febrile seizures and related epilepsy syndromes"Brain Dev. (in press). (2003)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Hirose S., et al.: "X-Linked mental retardation and epilepsy : Pathogenetic significance of ARX mutations"Brain Dev. 25. 161-165 (2003)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Okada M., et al.: "Age-dependent modulation of hippocampal excitability by KCNQ -channels"Epilepsy Research. 58. 81-94 (2003)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Hirose S., et al.: "Genetics abnormalities underlying familial epilepsy syndromes"Brain Dev. 24. 211-222 (2002)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Kaneko S., et al.: "Genetics of epilepsy : current status and perspectives"Neurosci Res. 44. 11-30 (2002)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Matsushima N., et al.: "Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor α4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocyte"Epilepsy Res. 48. 181-186 (2002)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Hirose S., et al: "The genetics of febrile seizures and related Epilepsy syndromes"Brain Dev.. in press. (2003)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Hirose S., et al: "X-Linked mental retardation and epilepsy: Pathogenetic significance of ARX mutions"Brain Dev.. 25. 161-165 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Okada M., et al: "Age-dependent modulation of hippocampal Excitability by KCNQ-channels"Epilepsy Research. 58. 81-94 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Hirose S., et al: "Genetics abnormality underlying familial Epilepsy syndromeses"Brain Dev.. 24. 211-222 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Kaneko S., et al: "Genetics of epilepsy: current status and Perspectives"Neurosci Res. 44. 11-30 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Matsushima N., et al: "Mutation(Ser284Leu) of neuronal nicotinic acetylcholine receptor α4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocyte"Epilepsy Research. 48. 181-186 (2002)

    • Description
      「研究成果報告書概要(欧文)」より

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Published: 2004-04-14  

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