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1996 Fiscal Year Final Research Report Summary

Genetic study epilepsies and febrile convulsions

Research Project

Project/Area Number 07307013
Research Category

Grant-in-Aid for Scientific Research (A)

Allocation TypeSingle-year Grants
Section総合
Research Field Psychiatric science
Research InstitutionHirosaki University

Principal Investigator

KANEKO Sunao  Hirosaki University, School of Medicine Professor, 医学部, 教授 (40106852)

Co-Investigator(Kenkyū-buntansha) ONUMA Teiichi  National Center Hospital Psychiatry, for Mental, Nervous and Muscular Disorders, 神経研究所第7部, 部長 (30003536)
SEKI Tohru  Keio University, School of Medicine Lecturer, 医学部, 講師 (70051274)
SANO Akira  Ehime University, University Hospital Assistant-professor, 医学部・附属病院, 助教授 (30178800)
ISOMURA Minoru  University of Tokyo, Institute of Medical Lecturer, 医科学研究所, 助手 (40272497)
TSUJI Shoji  Nigata University, Brain Research Institute Professor, 脳研究所, 教授 (70150612)
Project Period (FY) 1995 – 1996
Keywordsepilepsy / febrile convulsions / gene / linkage analysis / chromosome
Research Abstract

Epilepsy comprises a group of syndromes with clinical and etiologic heterogeneity and multifactorial pathogenesis. Family and twin studies have shown that genetic factors play a major role in the etiology of idiopathic generalized epilepsies. This project was organized for the study of epilepsy gene analysis.
The epilepsies selected were idipathic epilepsies, benign adult familial myoclonic epilepsy, benign infantile familial convulsions, severe myoclonic epilepsy in infancy and febrile convulsions. Inclusion and exclusion criteria have been decided for each epilepsy. We have reported the results of clinical genetic study and established clinical definition criteria for benign adult familial myoclonic epilepsy (BAFME). The lack of linkage between BAFME and dentatorubral-pallidoluysian atrophy has been found, and gene loci or locus of BAFME will be reported shortly. Our linkage analysis for other types of epilespsies are now going on, and we will be able to map loci of these epilepsies on chromosomes in the near future.

  • Research Products

    (48 results)

All Other

All Publications (48 results)

  • [Publications] Sunao Kaneko, et al: "Epilepsy and genetics" Psychiatry and Clinical Neurosciences. 49・3. 199-200 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Takeshi Ikeuchi, et al: "Dentatorubral‐pallidoluysian atrophy (DRPLA) Molecular basis for wide clinical features of DRPLA" Clinical Neuroscience. 3. 23-27 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] K Sato, et al: "Does homozygosity advance the onset of dentatorubral‐pallidoluysian atrophy?" Neurology. 45・10. 1934-1936 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Takeshi Ikeuchi, et al: "Dentatorubral‐pallidoluysian atrophy (DRPLA): close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation" Cell Biology. 6. 37-44 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Takeshi Ikeuchi, et al: "Dentatorubral-pallidoluysian atrophy : Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat" Annals of Neurology. 37・6. 769-775 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Osamu Onodera, et al: "Molecular cloning of full‐length cDNA for dentatorubral‐pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS" Am. J. Hum. Genet.57. 1050-1060 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Osamu Komure, et al: "DNA analysis in hereditary dentatorubral‐pallidoluysian atrophy: Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation" Neurology. 45・1. 143-149 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Shuichi Ueno, et al: "Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)" Human Molecular Genetics. 4・4. 663-666 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Teiichi Onuma: "Historical perspective in epileptic psychosis in Japan" Psychiatry and Clinical Neurosciences. 49. 179-183 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Michikazu Nakamura, et al: "A novel point mutation in the mitochondrial tRNA_<ser(UCN)> gene detected in a family with MERRF/MELAS overlap syndrome" Biochemical and Biophysical Research Communications. 214・1. 86-93 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Matsuko Ozawa, et al: "The 8,344mutation in mitochondrial DNA:A comparison between the proportion of mutant DNA and clinicopathologic findings" Neuromusc. Disord. 5・6. 483-488 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Yu-ichi Goto: "Clinical features of melas and mitochondrial DNA mutations" Muscle & Nerve. Suppl 3. 107-112 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Kazuyoshi Watanabe: "Medical treatment of West syndrome in Japan" Journal of Child Neurology. 10・2. 143-147 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Yoshiko Haga, et al: "Asymmetric spasms in West syndrome" J. Epilepsy. 8・1. 61-67 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Yoshiko Haga, et al: "Do ictal, clinical and electroencephalograrhic features predict outcome in West syndrome?" Pediatric Neurology. 13・3. 226-229 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Takeshi Ikeuchi, et al: "Non-mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph Disease: The mutant allele is preferetially transmitted in male meiosis" Am. J. Hum. Genet.58. 730-733 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Hiroki Takano, et al: "Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy : Cellular population-dependent dynamics of mitotic instability" The American Journal of Human Genetics. 58・6. 1212-1222 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Hiroko Yanagisawa, et al: "A unique origin and multistep process for the generation of expanded DRPLA triplet repeats" Human Molecular Genetics. 5・3. 373-379 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Yu-ichi Goto, et al: "Detection of DNA fragments encompassing the deletion junction of mitochondrial genome" Biochemical and Biophysical Research Communications. 222・2. 215-219 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Eiji Nakagawa,: "Long-term therapy with cytochrome c, flavin mononucleotide and thiamine dephoshate for a patient with Kearns-Sayre syndrome" Brain & Development. 18. 68-70 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] A Kuwano, et al: "Benign adult familial myoclonus epilepsy (BAFME) : an autosomal dominant form not liked to dentatorubral pallidoluysian atrophy (DRPLA) gene" J Med Genet. 33. 80-81 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Akihisa Okumura, et al: "Periventricular leukomalacia and West syndrome" Development and Medicne and Child Neurology. 38. 13-18 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Akihisa Okumura, et al: "Benign partial epilepsy in infancy" Archives of Disease in Childhood. 74. 19-21 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Kazuyoshi Watanabe: "Recent advances and some problems in the delineation of epileptic syndromes in children" Brain & Development. 18. 423-437 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Sunao Kaneko, et al: "Epilepsy and genetics" Psychiatry and Clinical Neurosciences.49 (3). S199-S200 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Takeshi Ikeuchi, et al: "Dentatorubral-pallidoluysian atrophy (DRPLA) : Molecular basis for wide clinical features of DRPLA." Clinical Neuroscience. 3. 23-27 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] K Sato, et al: "Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy?" Neurology. 45 (10). 1934-1936 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Takeshi Ikeuchi, et al: "Dentatorubral-pallidoluysian atrophy (DRPLA) : close correlation of CAG repeat expansions with the wide spectrum of clinical presentation and prominent anticipation." Cell Biology. 6. 37-44 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Takeshi Ikeuchi, et al: "Dentatorubral-pallidoluysian atrophy : Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat." Annals of Neurology. 37 (6). 769-775 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Osamu Onodera, et al: "Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS." Am.J.Hum.Genet.57. 1050-1060 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] O,Komure, et al: "DNA analysis in hereditary dentatorubral-pallidoluysian atrophy : Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation" Neurology. 45 (1). 143-149 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Shuichi Ueno, et al: "Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)" Human Molecular Genetics. 4 (4). 663-666 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Teiichi Onuma: "Historical perspectives in epileptic psychosis in Japan." Psychiatry and Clinical Neurosciences. 49. 179-183 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Michikazu Nakamura, et al: "A novel point mutation in the mitochondrial tRNA^<sec (UCN)> gene detected in a family with MERRF/MELAS overlap syndrome" Biochemical and Biophysical Research Communications.214 (1). 86-93 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Natsuko Ozawa, et al: "The 8,344 mutation in mitochondrial DNA : A comparision between the proportion of mutant DNA and clinicopathologic findings." Neuromusc. Disord.5 (6). 483-488 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Yu-ichi Goto: "Clinical features of melas and mitochonderial DNA mutations." Muscle & Nerve.Suppl 3. 107-112 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Kazuyoshi Watanabe: "Medical treatment of West syndrome in Japan" Journal of Child Neurology.10 (2). 143-147 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Yoshiko Haga, et al: "Asymmetric spasms in West syndrome." J.Epilepsy. 8 (1). 61-67 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Yoshiko Haga, et al: "Do ictal, clinical, and electroencephalographic features predict outcome in West syndrome?" Pediatric Neurology. 13 (3). 226-229 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Takeshi Ikeuchi, et al: "Non-mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease : The mutant allele is preferentially transmitted in male meiosis." Am.J.Hum, Genet. 58. 730-733 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Hiroki Takano, et al: "Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy : Cellular population-dependent dynamics of mitotic instability." Am.J.Hum.Genet. 58. 1212-1222 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Hiroko Yanagisawa, et al: "A unique origin and multistep process for the generation of expanded DRPLA triplet repeats." Human Molecular Genetics. 5 (3). 373-379 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Yu-ichi Goto, et al: "Detection of DNA fragments encompassing the deletion junction of mitochondrial genome." Biochemical and Biophysical Research Communications. 222 (2). 215-219 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Eiji Nakagawa, et al: "Long-term therapy with cytochrome c, flavin mononucleotide and thiamine diphosphate for a patient with Kearns-Sayre syndroms." Brain & Developmemt. 18. 68-70 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] A Kuwano, et al.: "Benign adult familial myoclonus epilepsy (BAFME) : an autosomal dominant form not linked to the dentatorubral-pallidoluysian atrophy (DRPLA) gene." J Med Genet.33. 80-81 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Akihisa Okumura, et al.: "Periventricular leukomalacia and West syndrome." Development Medicine and Child Neurology.38. 13-18 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Akihisa Okumura, et al: "Benign partial epilepsy in infancy." Archives of Disease in Childhood.74. 19-21 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Kazuyoshi Watanabe: "Recent advances and some problems in the delineation of epileptic syndromes in children." Brain & Development. 18. 423-427 (1996)

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

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Published: 1999-03-09  

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