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Development of molecular therapy for epilepsy using knock-in rats and artificial patient iPS cells with next generation methodologies

Research Project

Project/Area Number 15H02548
Research Category

Grant-in-Aid for Scientific Research (A)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionFukuoka University

Principal Investigator

Hirose shinichi  福岡大学, 医学部, 教授 (60248515)

Research Collaborator Inoue Ryuji  
Misumi Yoshio  
Katsurabayashi Shutaro  
Deshimaru Masanobu  
Koyama Susumu  
Project Period (FY) 2015-04-01 – 2019-03-31
Project Status Completed (Fiscal Year 2018)
Budget Amount *help
¥41,860,000 (Direct Cost: ¥32,200,000、Indirect Cost: ¥9,660,000)
Fiscal Year 2018: ¥5,590,000 (Direct Cost: ¥4,300,000、Indirect Cost: ¥1,290,000)
Fiscal Year 2017: ¥8,450,000 (Direct Cost: ¥6,500,000、Indirect Cost: ¥1,950,000)
Fiscal Year 2016: ¥6,890,000 (Direct Cost: ¥5,300,000、Indirect Cost: ¥1,590,000)
Fiscal Year 2015: ¥20,930,000 (Direct Cost: ¥16,100,000、Indirect Cost: ¥4,830,000)
Keywordsてんかん / 遺伝子改変動物 / iPS細胞 / 分子病態 / 創薬 / 小児神経 / イオンチャネル / 実験動物 / ラット / 脳神経疾患 / 遺伝子 / 応用動物 / 神経科学 / 脳・神経 / 小児神経学
Outline of Final Research Achievements

Genetic abnormalities including some in two novel epilepsy genes have been identified in epilepsy phenotypes using the next generation sequence. The molecular pathogeneses of the epilepsy phenotypes have been also investigated with the genetic information available. Two strains of rats bearing genetic mutations identified in human epilepsy have been genetically engineered. Similarly, several strains of genetically engineered mice have been generated. The molecular pathomechanisms of epilepsies have been investigated in vivo with the animals. Artificial patient iPS cells harboring a mutation causing Dravet syndrome have been successfully generated. With these cells, the underlying molecular pathomechanisms of Dravet syndrome have been uncovered. With these genetically engineered animals and iPS cells, the development of novel therapies based upon the molecular pathogeneses of epilepsies have been initiated and several candidate compounds haven been found.

Academic Significance and Societal Importance of the Research Achievements

多様性に富むてんかんを正しく分類し診断することができ、より適切な治療が可能となり、遺伝相談への対応もより正確になった。今後、抗てんかん薬を病態に基づき開発可能で、副作用の少ない、より効果的な新薬が期待できる。また、てんかんの発症における年齢依存性の解明などを通じ、遺伝子の時限発現と脳の機能発達といった脳の生物学的理解が深まると期待される。以上から本研究の成果は、いまだ副作用の多い抗てんかん薬に頼らざるを得ない全世界1000万人以上と目される患者さんの健康福祉に貢献すると思われる。

Report

(5 results)
  • 2018 Annual Research Report   Final Research Report ( PDF )
  • 2017 Annual Research Report
  • 2016 Annual Research Report
  • 2015 Annual Research Report
  • Research Products

    (80 results)

All 2019 2018 2017 2016 2015 2014

All Journal Article (32 results) (of which Int'l Joint Research: 12 results,  Peer Reviewed: 31 results,  Open Access: 9 results,  Acknowledgement Compliant: 9 results) Presentation (35 results) (of which Int'l Joint Research: 29 results,  Invited: 6 results) Book (13 results)

  • [Journal Article] Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)2019

    • Author(s)
      Yoshitomi Shinsaku、Takahashi Yukitoshi、Imai Katsumi、Koshimizu Eriko、Miyatake Satoko、Nakashima Mitsuko、Saitsu Hirotomo、Matsumoto Naomichi、Kato Mitsuhiro、Fujita Takako、Ishii Atsushi、Hirose Shinichi、Inoue Yushi
    • Journal Title

      Seizure

      Volume: 65 Pages: 118-123

    • DOI

      10.1016/j.seizure.2019.01.009

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene2018

    • Author(s)
      Tanaka Yasuyoshi、Sone Takefumi、Higurashi Norimichi、Sakuma Tetsushi、Suzuki Sadafumi、Ishikawa Mitsuru、Yamamoto Takashi、Mitsui Jun、Tsuji Hitomi、Okano Hideyuki、Hirose Shinichi
    • Journal Title

      Stem Cell Research

      Volume: 28 Pages: 100-104

    • DOI

      10.1016/j.scr.2018.01.036

    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene.2018

    • Author(s)
      Tanaka Y, Higurashi N, Shirasu N, Yasunaga S, Moreira KM, Okano H, Hirose S
    • Journal Title

      Stem Cell Res

      Volume: 31 Pages: 11-15

    • DOI

      10.1016/j.scr.2018.06.008

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features2018

    • Author(s)
      Okumura Akihisa、Maruyama Koichi、Shibata Mami、Kurahashi Hirokazu、Ishii Atsushi、Numoto Shingo、Hirose Shinichi、Kawai Tomoko、Iso Manami、Kataoka Shinsuke、Okuno Yusuke、Muramatsu Hideki、Kojima Seiji
    • Journal Title

      Brain and Development

      Volume: 40 Issue: 10 Pages: 926-930

    • DOI

      10.1016/j.braindev.2018.06.005

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Somatic mosaic deletions involving SCN1A cause Dravet syndrome2018

    • Author(s)
      Nakayama Tojo、Ishii Atsushi、Yoshida Takeshi、Nasu Hirosato、Shimojima Keiko、Yamamoto Toshiyuki、Kure Shigeo、Hirose Shinichi
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 176 Issue: 3 Pages: 657-662

    • DOI

      10.1002/ajmg.a.38596

    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene2018

    • Author(s)
      Ito Tomoshiro、Narugami Masashi、Egawa Kiyoshi、Yamamoto Hiroyuki、Asahina Naoko、Kohsaka Shinobu、Ishii Atsushi、Hirose Shinichi、Shiraishi Hideaki
    • Journal Title

      Brain Dev.

      Volume: 40 Issue: 3 Pages: 226-228

    • DOI

      10.1016/j.braindev.2017.11.007

    • NAID

      120006559004

    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] CACNA1A-related early-onset encephalopathy with myoclonic epilepsy: A case report.2018

    • Author(s)
      Hayashida T, Saito Y, Ishii A, Yamada H, Itakura A, Minato T, Fukuyama T, Maegaki Y, Hirose S.
    • Journal Title

      Brain Dev.

      Volume: 40(2) Issue: 2 Pages: 130-3

    • DOI

      10.1016/j.braindev.2017.08.006

    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report.2018

    • Author(s)
      Hayashida T, Saito Y, Ishii A, Hirose S, Hiraiwa R, Maegaki Y, Ohno K.
    • Journal Title

      Brain Dev.

      Volume: 40(7) Issue: 7 Pages: 576-81

    • DOI

      10.1016/j.braindev.2018.03.004

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy2018

    • Author(s)
      Bailey Julia N.、de Nijs Laurence、Bai Dongsheng、Suzuki Toshimitsu、Miyamoto Hiroyuki、Yamakawa Kazuhiro、Lakaye Bernard、Delgado-Escueta Antonio V. et al.
    • Journal Title

      New England Journal of Medicine

      Volume: 378 Issue: 11 Pages: 1018-1028

    • DOI

      10.1056/nejmoa1700175

    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Abnormal gamma-aminobutyric acid neurotransmission in a Kcnq2 model of early onset epilepsy.2017

    • Author(s)
      Uchida T, Lossin C, Ihara Y, Deshimaru M, Yanagawa Y, Koyama S, Hirose S.
    • Journal Title

      Epilepsia.

      Volume: 58(8) Issue: 8 Pages: 1430-9

    • DOI

      10.1111/epi.13807

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Two mild cases of Dravet syndrome with truncating mutation of SCN1A.2017

    • Author(s)
      Takaori T, Kumakura A, Ishii A, Hirose S, Hata D.
    • Journal Title

      Brain Dev.

      Volume: 39(1) Issue: 1 Pages: 72-4

    • DOI

      10.1016/j.braindev.2016.07.006

    • Related Report
      2017 Annual Research Report 2016 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures.2017

    • Author(s)
      Saito T, Ishii A, Sugai K, Sasaki M, Hirose S.
    • Journal Title

      Clin Genet.

      Volume: 92(6) Issue: 6 Pages: 654-8

    • DOI

      10.1111/cge.13049

    • Related Report
      2017 Annual Research Report
  • [Journal Article] Integrative Approach with Electrophysiological and Theoretical Methods Reveals a New Role of S4 Positively Charged Residues in PKD2L1 Channel Voltage-Sensing2017

    • Author(s)
      Numata Tomohiro、Tsumoto Kunichika、Yamada Kazunori、Kurokawa Tatsuki、Hirose Shinichi、Nomura Hideki、Kawano Mitsuhiro、Kurachi Yoshihisa、Inoue Ryuji、Mori Yasuo
    • Journal Title

      Sci. Rep.

      Volume: 7 Issue: 1 Pages: 9760-9760

    • DOI

      10.1038/s41598-017-10357-3

    • NAID

      120006364088

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome.2017

    • Author(s)
      Ishii A, Watkins JC, Chen D, Hirose S, Hammer MF.
    • Journal Title

      Epilepsia.

      Volume: 58 Issue: 2 Pages: 282-290

    • DOI

      10.1111/epi.13639

    • Related Report
      2017 Annual Research Report 2016 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.2017

    • Author(s)
      Ishii A, Kang JQ, Schornak CC, Hernandez CC, Shen W, Watkins JC, Macdonald RL, Hirose S.
    • Journal Title

      J Med Genet.

      Volume: 54 Issue: 3 Pages: 202-211

    • DOI

      10.1136/jmedgenet-2016-104083

    • Related Report
      2017 Annual Research Report 2016 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] New Genes for Epilepsy - Autism Comorbidity.2017

    • Author(s)
      Ishii A, Hirose S.
    • Journal Title

      J Pediatr Neurol.

      Volume: 15 Issue: 03 Pages: 105-14

    • DOI

      10.1055/s-0037-1602822

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Vagus nerve stimulation for genetic epilepsy with febrile seizures plus (GEFS+) accompanying seizures with impaired consciousness.2017

    • Author(s)
      Hanaya R, Niantiarno FH, Kashida Y, Hosoyama H, Maruyama S, Otsubo T, Tanaka K, Ishii A, Hirose S, Arita K.
    • Journal Title

      Epilepsy Behav Case Rep.

      Volume: 7 Pages: 16-9

    • DOI

      10.1016/j.ebcr.2016.11.001

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.2017

    • Author(s)
      Hammer MF, Ishii A, Johnstone L, Tchourbanov A, Lau B, Sprissler R, Hallmark B, Zhang M, Zhou J, Watkins J, Hirose S.
    • Journal Title

      PLoS ONE.

      Volume: 12(7) Issue: 7 Pages: e0180485-e0180485

    • DOI

      10.1371/journal.pone.0180485

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] SCN8A encephalopathy: Research progress and prospects.2016

    • Author(s)
      Meisler MH, Helman G, Hammer MF, Fureman BE, Gaillard WD, Goldin AL, Hirose S, Ishii A, Kroner BL, Lossin C, Mefford HC, Parent JM, Patel M, Schreiber J, Stewart R, Whittemore V, Wilcox K, Wagnon JL, Pearl PL, Vanderver A, Scheffer IE.
    • Journal Title

      Epilepsia

      Volume: 57(7) Issue: 7 Pages: 1027-1035

    • DOI

      10.1111/epi.13422

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation.2016

    • Author(s)
      Ju J, Hirose S, Shi XY, Ishii A, Hu LY, Zou LP.
    • Journal Title

      Orphanet J Rare Dis.

      Volume: 11(1) Issue: 1 Pages: 55-55

    • DOI

      10.1186/s13023-016-0438-7

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations2016

    • Author(s)
      Yukiko Ihara, Yuko Tomonoh, Masanobu Deshimaru, Bo Zhang, Taku Uchida, Atsushi Ishii, Shinichi Hirose
    • Journal Title

      PLoS One

      Volume: 11 Issue: 2 Pages: e0150095-e0150095

    • DOI

      10.1371/journal.pone.0150095

    • Related Report
      2016 Annual Research Report 2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes.2015

    • Author(s)
      Shi XY, Tomonoh Y, Wang WZ, Ishii A, Higurashi N, et al.
    • Journal Title

      Brain Dev

      Volume: 38 Issue: 1 Pages: 40-46

    • DOI

      10.1016/j.braindev.2015.06.008

    • Related Report
      2016 Annual Research Report 2015 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures.2015

    • Author(s)
      Yamamoto T, Shimojima K, Sangu N, Komoike Y, Ishii A, Abe S, Yamashita S, Imai K, Kubota T, Fukasawa T, Okanishi T, Enoki H, Tanabe T, Saito A, Furukawa T, Shimizu T, Milligan CJ, Petrou S, Heron SE, Dibbens LM, Hirose S, Okumura A.
    • Journal Title

      PLoS ONE

      Volume: 10(3) Issue: 3 Pages: e0118946-e0118946

    • DOI

      10.1371/journal.pone.0118946

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Predictive score for early diagnosis of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD).2015

    • Author(s)
      Tada H, Takanashi J, Okuno H, Kubota M, Yamagata T, Kawano G, Shiihara T, Hamano S, Hirose S, Hayashi T, Osaka H, Mizuguchi M.
    • Journal Title

      NEUROL SCI.

      Volume: 358(1-2) Issue: 1-2 Pages: 62-5

    • DOI

      10.1016/j.jns.2015.08.016

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Development of a mouse model of infantile spasms induced by N-methyl-d-aspartate.2015

    • Author(s)
      Shi XY, Yang XF, Tomonoh Y, Hu LY, Ju J, Hirose S, Zou LP.
    • Journal Title

      Epilepsy Res.

      Volume: 118 Pages: 29-33

    • DOI

      10.1016/j.eplepsyres.2015.09.014

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Clinical and genetic features of acute encephalopathy in children taking theophylline.2015

    • Author(s)
      Saitoh M, Shinohara M, Ishii A, Ihara Y, Hirose S, Shiomi M, Kawawaki H, Kubota M, Yamagata T, Miyamoto A, Yamanaka G, Amemiya K, Kikuchi K, Kamei A, Akasaka M, Anzai Y, Mizuguchi M.
    • Journal Title

      Brain Dev

      Volume: 37 Issue: 5 Pages: 463-70

    • DOI

      10.1016/j.braindev.2014.07.010

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.2015

    • Author(s)
      Saitoh M, Ishii A, Ihara Y, Hoshino A, Terashima H, Kubota M, Kikuchi K, Yamanaka G, Amemiya K, Hirose S, Mizuguchi M.
    • Journal Title

      Epilepsy Res

      Volume: 117. Pages: 1-6

    • DOI

      10.1016/j.eplepsyres.2015.08.001

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy.2015

    • Author(s)
      Kano S, Yuan M, Cardarelli RA, Maegawa G, Higurashi N, et al.
    • Journal Title

      Currrent Molecular Medicine

      Volume: 15 Issue: 2 Pages: 138-145

    • DOI

      10.2174/1566524015666150303110300

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Ring Chromosome 20 Syndrome and Epilepsy.2015

    • Author(s)
      Ishii A, Hirose S.
    • Journal Title

      J Pediatr Epilepsy.

      Volume: 4 Issue: 01 Pages: 47-52

    • DOI

      10.1055/s-0035-1554792

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy.2015

    • Author(s)
      Higurashi N, Takahashi Y, Kashimada A, Sugawara Y, Sakuma H, Tomonoh Y, Inoue T, Hoshina M, Satomi R, Ohfu M, Itomi K, Takano K, Kirino T, Hirose S.
    • Journal Title

      Seizure

      Volume: 27 Pages: 1-5

    • DOI

      10.1016/j.seizure.2015.02.006

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] A case of recurrent encephalopathy with SCN2A missense mutation.2015

    • Author(s)
      Fukasawa T, Kubota T, Negoro T, Saitoh M, Mizuguchi M, Ihara Y, Ishii A, Hirose S.
    • Journal Title

      Brain Dev

      Volume: 37(6) Issue: 6 Pages: 631-4

    • DOI

      10.1016/j.braindev.2014.10.001

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndrome.2014

    • Author(s)
      Kouga T, Shimbo H, Iai M, Yamashita S, Ishii A, Ihara Y, Hirose S, Yamakawa K, Osaka H.
    • Journal Title

      Brain & Development

      Volume: 印刷中 Issue: 2 Pages: 243-9

    • DOI

      10.1016/j.braindev.2014.04.003

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed
  • [Presentation] Genetic background of developmental and epileptic encephalopathies2018

    • Author(s)
      Hirose S
    • Organizer
      KEC2018 23rd
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Challenges and Opportunities in Pediatric Neurological Disease in Low Income Countries like Nepal2018

    • Author(s)
      Hirose S
    • Organizer
      XIXth Nepalese Congress of Paediatrics,NEPCON 2018 & 37th Anniversary NEPAS
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Precision medicine through stem cells2018

    • Author(s)
      Hirose S,
    • Organizer
      12th Asian and Oceanian Epilepsy Congress
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Disease Modeling of Refractory Epilepsy using iPSCs2018

    • Author(s)
      Hirose S
    • Organizer
      The 40th Annual Meeting of Japanese Society of Biological Psychiatry The 61st Annual Meeting of the Japanese Society for Neurochmistry
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Genes in Focal Epilepsy2018

    • Author(s)
      Hirose S
    • Organizer
      ANZCNS 7th Annual Scientific Meeting
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Application of Genetics to Epilepsy after Gene-Hunting2018

    • Author(s)
      Hirose S
    • Organizer
      Anzcns 7th Annual Scientific Meeting
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Pathogenesis and genetic substrate2018

    • Author(s)
      Hirose S
    • Organizer
      19th International symposium on severe infantile epilepsies: old and new treatments.
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Application of induced pluripotent stem (iPS) cells in intractable childhood disorders2017

    • Author(s)
      Hirose S
    • Organizer
      10th Annual World Congress on Pediatrics, Pediatric Gastroenterology and Nutrition
    • Place of Presentation
      アメリカ
    • Year and Date
      2017-03-23
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Epilepsy Genetics beyond “Mutation Hunting”Bridges from Laboratory to Patient Care-From the studies for epilepsy at Fukuoka University-2017

    • Author(s)
      Hirose S.
    • Organizer
      2017 Educational Seminar of Genetic & Metabolic Diseases for Young Pediatricians/Investigators(SGMDYPI)
    • Place of Presentation
      東京
    • Year and Date
      2017-01-21
    • Related Report
      2016 Annual Research Report
    • Invited
  • [Presentation] Genetics of epileptic encephalopathy.2017

    • Author(s)
      Hirose S
    • Organizer
      4th National Conference of Society for Indian Academy of Medical Genetics(SIAMG)
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] The potential of stem cells in precision medicine2017

    • Author(s)
      Hirose S.
    • Organizer
      32nd International Epilepsy Congress.
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Effects of steroid pulse therapy in autoimmune childhood epilepsy with anti-glutamate receptor antibodies.2017

    • Author(s)
      Yamaguchi H, Watanabe E, Ihara Y, Tomonoh Y, Fujita T, Ideguchi H, Inoue T, Takahashi Y, Yasumoto S, Hirose S
    • Organizer
      CNSP-PLAE Symposium on Status Epilepticus & 9th National Epilepsy Congress.
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Status epilepticus in genetic epilepsies.2017

    • Author(s)
      Hirose S, Ishii A.
    • Organizer
      CNSP-PLAE Symposium on Status Epilepticus & 9th National Epilepsy Congress.
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Voltage-Gated sodium Ion Channels in Epileptic Encephalopathy.2017

    • Author(s)
      Hirose S.
    • Organizer
      14th Asian and Oceanian Congress of Child Neurology.
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.2017

    • Author(s)
      Ishii A, Hirose S
    • Organizer
      14th Asian and Oceanian Congress of Child Neurology.
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] The effectiveness of steroid pulse therapy and prognosis in frontal lobe epilepsy with anti-glutamate receptor antibodies:a case report.2017

    • Author(s)
      Ihara Y, Tomonoh Y, Fujita T, Ideguchi H, Inoue T, Takahashi Y, Yasumoto S, Hirose S.
    • Organizer
      14th Asian and Oceanian Congress of Child Neurology.
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Efficacy of Levetiracetam monotherapy in epilepsy.2017

    • Author(s)
      Ideguchi H, Ihara Y, Fujita T, Inoue T, Hirose S.
    • Organizer
      14th Asian and Oceanian Congress of Child Neurology.
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] ACTH induced nonconvulsive status epilepticus in an infant with West Syndrome.2017

    • Author(s)
      Fujita T, Ideguchi H, Watanabe E, Tomonoh Y, Ihara Y, Inoue T, Hirose S, Yasumoto S
    • Organizer
      14th Asian and Oceanian Congress of Child Neurology.
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Effects of steroid pulse therapy in refractory epilepsy with anti-glutamate receptor antibodies2017

    • Author(s)
      Watanabe E, Ihara Y, tomonoh Y, Fujita T, Ideguchi H, Inoue T, Takahashi Y, Yasumoto S, Hirose S
    • Organizer
      14th Asian and Oceanian Congress of Child Neurology.
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Application of induced pluripotent stem (iPS) cells in intractable childhood disorders.2017

    • Author(s)
      Hirose S
    • Organizer
      10th Annual World Congress on Pediatrics, Pediatric Gastroenterology and Nutrition
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Characteristics of SCN1A Mutation locations in a Cohort of 285 Japanese Dravet Syndrome Patients2016

    • Author(s)
      Ishii A, Watkins J, Chen D, Hirose S, Hammer M
    • Organizer
      AES Annual Meeting
    • Place of Presentation
      アメリカ
    • Year and Date
      2016-12-02
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Genetic background of encephalopathy2016

    • Author(s)
      Hirose S
    • Organizer
      The 18th annual meeting of infantile seizure society, International Symposium on Acute Encephalopathy in Infancy and Its Related Disorders(ISAE2016)
    • Place of Presentation
      東京
    • Year and Date
      2016-07-01
    • Related Report
      2016 Annual Research Report
    • Invited
  • [Presentation] Genetic prdisposition to acute encephalopathy with status epilepticus.2016

    • Author(s)
      Saitoh M, Hoshino A, Ishii A, Ihara Y, Hirose S, Mizuguchi M
    • Organizer
      The 18th annual meeting of infantile seizure society International Symposium on Acute Encephalopathy in Infancy and Its Related Disorders (ISAE2016)
    • Place of Presentation
      東京
    • Year and Date
      2016-07-01
    • Related Report
      2016 Annual Research Report
  • [Presentation] A case of Dravet syndrome affected an acute encephalopathy.2016

    • Author(s)
      Sokoda T, Nishizawa Y, Matsui J, Nishikura N, Takano T, Takeuchi Y, Ishii A, Hirose S
    • Organizer
      The 18th annual meeting of infantile seizure society International Symposium on Acute Encephalopathy in Infancy and Its Related Disorders (ISAE2016)
    • Place of Presentation
      東京
    • Year and Date
      2016-07-01
    • Related Report
      2016 Annual Research Report
  • [Presentation] The effect of steroid pulse therapy on a case of Dravet,2016

    • Author(s)
      Fujita T, Ideguchi H, Watanabe E, Tomonoh Y, Ihara Y, Inoue T, Takahashi Y, Hirose S
    • Organizer
      The 18th annual meeting of infantile seizure society International Symposium on Acute Encephalopathy in Infancy and Its Related Disorders (ISAE2016)
    • Place of Presentation
      東京
    • Year and Date
      2016-07-01
    • Related Report
      2016 Annual Research Report
  • [Presentation] How to interpret the results of a genetic test for epilepsy2016

    • Author(s)
      Hirose S
    • Organizer
      11th Asian & Oceanian epilepsy congress
    • Place of Presentation
      香港
    • Year and Date
      2016-05-13
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Predictions of regression of intellectual disability and measuring efficacy of medication in 286 Japanese cohort of Dravet syndrome with SCN1A missense and truncation mutations2016

    • Author(s)
      Ishii A, Watkins J C, Chen D, Hirose S, Hammer M F, the Japanese Febrile Seizures and Epilepsy Working Group.
    • Organizer
      11th Asian & Oceanian epilepsy congress,
    • Place of Presentation
      香港
    • Year and Date
      2016-05-13
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research
  • [Presentation] iPS細胞と最新遺伝子操作技術で拓く未来の医療ー福岡大学てんかん研究からー2015

    • Author(s)
      廣瀨伸一
    • Organizer
      福岡大学医学部長崎支部学術講演会
    • Place of Presentation
      長崎
    • Year and Date
      2015-07-03
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] Channelopathy in Early- life Seizures.2015

    • Author(s)
      Hirose S
    • Organizer
      The 13th Asian and Oceanian Congress od Child Neurology
    • Place of Presentation
      Taipei, Taiwan
    • Year and Date
      2015-05-14
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Identification of a De Novo KCNT1 Mutaion in a Girl with Infantile Spasms,2015

    • Author(s)
      Inoue T, Ishii A, Tsurusawa R, Nakamura N, Kanaumi T, Saitsu H, Kato M, Hirose S, Ogawa A.
    • Organizer
      The 13th Asian and Oceanian Congress of Child Neurology
    • Place of Presentation
      Taipei, Taiwan
    • Year and Date
      2015-05-14
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Retigabine, a Kv7.2 Channel Opener, Attenuated Drug-induced Seizures in Knock-in Mice Harboring KCNQ2 Mutations.2015

    • Author(s)
      Ihara Y, Tomonoh Y, Deshimaru M, Hirose S.
    • Organizer
      The 13th Asian and Oceanian Congress od Child Neurology,
    • Place of Presentation
      Taipei, Taiwan
    • Year and Date
      2015-05-14
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Neurological Complications of in-patients with Exanthem Subitum.2015

    • Author(s)
      Fujita T, Ideguchi H, Kawatani E, Tomonoh Y, Ihara Y, Kanaumi T, Inoue T, Takahashi Y, Hirose S, Yasumoto S.
    • Organizer
      The 13th Asian and Oceanian Congress of Child Neurology,
    • Place of Presentation
      Taipei, Taiwan
    • Year and Date
      2015-05-14
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Presentation] A KCNQ2 Mutation Enhances Firing and GABA Release of GABAergic Interneurons in the Neonatal Hippocampus.2015

    • Author(s)
      Uchida T, Deshimaru M, Yanagawa Y, Koyama S,Hirose S.
    • Organizer
      The 13th Asian and Oceanian Congress od Child Neurology,
    • Place of Presentation
      Taipei, Taiwan
    • Year and Date
      2015-05-14
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Immediate Suppression of Seizure Clusters by Corticosteroids in PCDH19 Female Epilepsy.2015

    • Author(s)
      Higurashi N, Takahashi Y, Hirose S.
    • Organizer
      The 13th Asian and Oceanian Congress od Child Neurology,
    • Place of Presentation
      Taipei, Taiwan
    • Year and Date
      2015-05-14
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Genome Editing of SCN1A in iPS Cells to Study the Pahomechanisms of Dravet Syndorome.2015

    • Author(s)
      Tanaka Y, Sone T, Uchida T, Higurashi N, Ishikawa M, Okano H, Hirose S.
    • Organizer
      The 13th Asian and Oceanian Congress od Child Neurology,
    • Place of Presentation
      Taipei, Taiwan
    • Year and Date
      2015-05-14
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Book] Acute Encephalopathy and Encephalitis in Infancy and Its Related Disorders.2017

    • Author(s)
      Ishii A, Hirose S.
    • Total Pages
      8
    • Publisher
      Elsevier: USA
    • Related Report
      2017 Annual Research Report
  • [Book] 稀少てんかんの診療指標2017

    • Author(s)
      石井敦士、廣瀨伸一
    • Total Pages
      6
    • Publisher
      診断と治療社
    • Related Report
      2017 Annual Research Report
  • [Book] 稀少てんかんの診療指標2017

    • Author(s)
      日暮憲道、廣瀨伸一
    • Total Pages
      3
    • Publisher
      診断と治療社
    • Related Report
      2017 Annual Research Report
  • [Book] 遺伝医学MOOK別冊 最新精神・神経遺伝医学研究と遺伝カウンセリング2017

    • Author(s)
      石井敦士、廣瀨伸一
    • Total Pages
      8
    • Publisher
      株式会社メディカルドゥ
    • Related Report
      2017 Annual Research Report
  • [Book] 今日の治療指針2016

    • Author(s)
      廣瀨伸一
    • Total Pages
      2
    • Publisher
      医学書院
    • Related Report
      2016 Annual Research Report
  • [Book] 神経内科外来シリーズ4てんかん外来2016

    • Author(s)
      石井敦士、廣瀨伸一
    • Total Pages
      8
    • Publisher
      MRDICALVIEW
    • Related Report
      2016 Annual Research Report
  • [Book] てんかん白書 てんかん医療・研究のアクションプラン2016

    • Author(s)
      石井敦士、廣瀨伸一
    • Total Pages
      9
    • Publisher
      日本てんかん学会
    • Related Report
      2016 Annual Research Report
  • [Book] 今日の治療指針 私はこう治療している熱性けいれん febrile seizures(FS)2016

    • Author(s)
      廣瀨伸一
    • Total Pages
      2
    • Publisher
      医学書院
    • Related Report
      2015 Annual Research Report
  • [Book] てんかん外来 神経内科外来シリーズ4てんかんでの遺伝子異常2016

    • Author(s)
      石井敦士、廣瀨伸一
    • Total Pages
      8
    • Publisher
      メジカルビュー社
    • Related Report
      2015 Annual Research Report
  • [Book] 臨床てんかん学 第5章てんかんの遺伝学    一般的な年齢非依存性焦点性てんかん2015

    • Author(s)
      倉橋宏和・廣瀨伸一
    • Total Pages
      3
    • Publisher
      医学書院
    • Related Report
      2015 Annual Research Report
  • [Book] 臨床てんかん学 第5章てんかんの遺伝学 若年ミオクロニーてんかんを含めた特発性全般てんかん2015

    • Author(s)
      石井敦士、廣瀨伸一
    • Total Pages
      3
    • Publisher
      医学書院
    • Related Report
      2015 Annual Research Report
  • [Book] 臨床てんかん学 第5章てんかんの遺伝学    小児欠伸てんかん2015

    • Author(s)
      石井敦士、廣瀨伸一
    • Total Pages
      2
    • Publisher
      医学書院
    • Related Report
      2015 Annual Research Report
  • [Book] 臨床てんかん学 第5章てんかんの遺伝学 良性ローランドてんかん2015

    • Author(s)
      倉橋宏和、廣瀨伸一
    • Total Pages
      2
    • Publisher
      医学書院
    • Related Report
      2015 Annual Research Report

URL: 

Published: 2015-04-16   Modified: 2020-03-30  

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