Development of genetically engineered animal models and novel therapeutic measures for human Epilepsy

• Project/Area Number: 21249062
• 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 福岡大学, 医学部, 教授 (60248515)
• Co-Investigator(Renkei-kenkyūsha): MISUMI Yoshio 福岡大学, 医学部, 准教授 (10148877) ; TAKANO Yukio 福岡大学, 薬学部, 教授 (50113246) ; SAITO Ryo 福岡大学, 薬学部, 講師 (80122696) ; DESHIMARU Masanobu 福岡大学, 理学部, 准教授 (70309889) ; INOUE Ryuji 福岡大学, 医学部, 教授 (30232573) ; KATSURABAYASHI Shutaro 福岡大学, 薬学部, 助教 (50435145) ; ARAKI Kimi 熊本大学, 准教授 (90211705)
• Project Period (FY): 2009 – 2011
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥39,780,000 (Direct Cost: ¥30,600,000、Indirect Cost: ¥9,180,000); Fiscal Year 2011: ¥7,150,000 (Direct Cost: ¥5,500,000、Indirect Cost: ¥1,650,000); Fiscal Year 2010: ¥7,150,000 (Direct Cost: ¥5,500,000、Indirect Cost: ¥1,650,000); Fiscal Year 2009: ¥25,480,000 (Direct Cost: ¥19,600,000、Indirect Cost: ¥5,880,000)
• Keywords: 小児神経学 / チャネル / 受容体 / てんかん / 中枢神経 / 遺伝子

Research Abstract

We have identified over 100 genetic abnormalities which cause epilepsy in our DNA bank. We have also successfully genetically engineered mice which harbor genetic abnormalities identified in human. These outcomes have established a system which allows rapid and continuous identification and analyses of genetic abnormalities in individuals with epilepsy. Now novel therapeutic measures based upon the pathogeneses of epilepsy are being developed.

Research Products

• [Journal Article] A Novel Mutation of Human Liver Alanine:Glyoxylate Aminotransferase Causes Primary Hyperoxaluria Type 1: Immunohistochemical Quantification and Subcellular Distribution (2012)
  • Author(s): Kawai C, Minatogawa Y, Akiyoshi H, Hirose S, Suehiro T, Tone S
  • Journal Title: ACTA HISTOCHEMICA ET CYTOCHEMICA Volume: 45 Issue: 2 Pages: 121-129
  • DOI: 10.1267/ahc.11042
  • NAID: 130001854237
  • ISSN: 0044-5991, 1347-5800
  • Peer Reviewed
• [Journal Article] On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome withmissense mutation (2012)
  • Author(s): Shi X, Wang J, Kurahashi H, Ishii A, Higurashi N, Kaneko S, Hirose S
  • Journal Title: Brain Dev Volume: 99 Pages: 27-38
  • Peer Reviewed
• [Journal Article] Mutations of the SCN1A gene in acute encephalopathy (2012)
  • Author(s): Saitoh M, Shinohara M, Hoshino H,Kubota M, Amemiya K, Takanashi JL, Hwang SK,Hirose S, Mizuguchi M
  • Journal Title: Epilepsia Volume: 53 Issue: 3 Pages: 558
  • DOI: 10.1111/j.1528-1167.2011.03402.x
  • Peer Reviewed
• [Journal Article] Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familialinfantile convulsions. (2012)
  • Author(s): Ono S, Yoshiura K , KinoshitaA, Kikuchi T, Nakane Y, Kato N,Sadamatsu M , Konishi T , Nagamitsu S , Matsuura M, Yasuda A, KomineM, Kanai K , Inoue T , Osamura T , Saito K , Hirose S, Koide H, Tomita H , Ozawa H , Niikawa N and Kurotaki N.
  • Journal Title: J Hum Genet Volume: 57 Issue: 5 Pages: 1-4
  • DOI: 10.1038/jhg.2012.23
  • Peer Reviewed
• [Journal Article] PCDH19 Mutation in Japanese Females with Epilepsy (2012)
  • Author(s): Higurashi N, Shi X, Yasumoto S, Oguni K, Itomi K, Miyamoto A, Shirishi H, Kato T, Makita Y, Hirose S.
  • Journal Title: Epilepsy Res Volume: 99 Issue: 1-2 Pages: 28-37
  • DOI: 10.1016/j.eplepsyres.2011.10.014
  • Peer Reviewed
• [Journal Article] Clinical spectrum of SCN2A mutations (2011)
  • Author(s): Shi X, Yasumoto S, Kurahashi K,Nakagawa E, Fukasawa T, Uchiya S, Hirose S
  • Journal Title: Brain Dev Volume: 34(7) Issue: 7 Pages: 541-5
  • DOI: 10.1016/j.braindev.2011.09.016
  • Peer Reviewed
• [Journal Article] Early-onset absence epilepsy at eight months of age (2011)
  • Author(s): Kobayashi Y, Akasaka N, Ohashi T, SaitohS, Tomonoh Y, Hirose S, Tohyama J
  • Journal Title: Epileptic Disord. Volume: 13(4) Pages: 417-21
  • Peer Reviewed
• [Journal Article] Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation. (2011)
  • Author(s): Hwang SK, Makita Y, Kurahashi H, Cho YW, Hirose S
  • Journal Title: J Hum Genet Volume: 56(8) Issue: s2 Pages: 609-12
  • DOI: 10.1111/j.1528-1167.2011.03002.x
  • NAID: 10030660618
  • Peer Reviewed
• [Journal Article] Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome (2011)
  • Author(s): Sakauchi M,Oguni H, Kato I, Osawa M, Hirose S, Kaneko S, Takahashi Y, Takayama R, Fujiwara T
  • Journal Title: Epilepsia Volume: 52(6) Issue: 6 Pages: 1144-9
  • DOI: 10.1111/j.1528-1167.2011.03053.x
  • Peer Reviewed
• [Journal Article] Diagnosing nocturnal frontal lobe epilepsy: A case study of two children (2011)
  • Author(s): Tomonoh Y, Yasumoto S, Ihara Y, Fujita T, Nakamura N, Ninomiya S, Kodama R, Ideguchi H, Inoue T, Mitsudome A, Hirose S
  • Journal Title: Seizure Volume: 20(7) Issue: 7 Pages: 583-5
  • DOI: 10.1016/j.seizure.2011.03.004
  • Peer Reviewed
• [Journal Article] The Developmental Changes of Na(v)1.1 and Na(v)1.2 Expression in the Human Hippocampus and Temporal Lobe. (2011)
  • Author(s): Wang W, Takashima S, Segawa Y, Itoh M, Shi X, Hwang SK, Nabeshima K, Takeshita M, Hirose S.
  • Journal Title: Brain Res Volume: 1389(5) Pages: 61-70
  • DOI: 10.1016/j.brainres.2011.02.083
  • Peer Reviewed
• [Journal Article] A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency (2011)
  • Author(s): Yamakawa Y, Nakazawa T, Ishida A, Saito N, Komatsu M, Matsubara T, Obinata K, Hirose S, Okumura A, Shimizu T.
  • Journal Title: Brain Dev Volume: 34(2) Issue: 2 Pages: 107-12
  • DOI: 10.1016/j.braindev.2011.05.003
  • NAID: 10031049740
  • Peer Reviewed
• [Journal Article] Early-onset absence epilepsy at eight months of age (2011)
  • Author(s): Kobayashi Y, Akasaka N, Ohashi T, Saitoh S, Tomonoh Y, Hirose S, Tohyama J.2011
  • Journal Title: Epileptic Disord Volume: 13(4) Pages: 417-21
  • Peer Reviewed
• [Journal Article] Autosomal dominant nocturnal frontal lobe epilepsy : a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation (2011)
  • Author(s): Hwang SK, Makita Y, Kurahashi H, Cho YW, Hirose S.2011
  • Journal Title: J Hum Genet Volume: 56(8) Issue: 8 Pages: 609-12
  • DOI: 10.1038/jhg.2011.69
  • NAID: 10030660618
  • Peer Reviewed
• [Journal Article] Genetics of temporal lobe epilepsy (2011)
  • Author(s): Hwang SK, HIROSE S
  • Journal Title: Brain Dev Volume: (in press) Issue: 8 Pages: 609-616
  • DOI: 10.1016/j.braindev.2011.10.008
  • Peer Reviewed
• [Journal Article] On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation (2011)
  • Author(s): Shi X, Wang J, Kurahashi H, Ishii A, Higurashi N, Kaneko s, Hirose S
  • Journal Title: Brain Dev Volume: (in press) Issue: 8 Pages: 617-9
  • DOI: 10.1016/j.braindev.2011.11.005
  • Peer Reviewed
• [Journal Article] Positive association between benign familial infantile convulsions and LGI4 (2010)
  • Author(s): Ishii A, Zhang B, Kaneko S, Hirose S
  • Journal Title: Brain Dev Volume: 32 Issue: 7 Pages: 538-43
  • DOI: 10.1016/j.braindev.2009.09.006
  • NAID: 10027491923
  • Peer Reviewed
• [Journal Article] Genetic testing in the epilepsies (2010)
  • Author(s): Ottman R, Hirose S
  • Journal Title: Report of the ILAE Genetics Commission Epilepsia Volume: 51(4) Issue: 4 Pages: 655-670
  • DOI: 10.1111/j.1528-1167.2009.02429.x
  • Peer Reviewed
• [Journal Article] IgG subclasses and complement pathway in segmental and global membranous nephropathy (2010)
  • Author(s): Segawa Y, Hisano S, Matsushita M, Fujita T, Hirose S, Takeshita M, Iwasaki H
  • Journal Title: Pediatr Nephrol Volume: 25(6) Issue: 6 Pages: 1091-9
  • DOI: 10.1007/s00467-009-1439-8
  • Peer Reviewed
• [Journal Article] Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies (2010)
  • Author(s): Shi X, Huang MC, Ishii A, Yoshida S, Okada M, Morita K, Nagafuji H, Yasumoto S, Kaneko S, Kojima T, Hirose S.
  • Journal Title: J Hum Genet Volume: 55(6) Issue: 6 Pages: 375-8
  • DOI: 10.1038/jhg.2010.47
  • NAID: 10030735495
  • Peer Reviewed
• [Journal Article] Interaction of golgin-84 with the conserved oligomeric Golgi (COG)complex mediates the intra-Golgi retrograde transport. (2010)
  • Author(s): Sohda M, Misumi Y, Yamamoto A, Nakamura N, Ogata S, Sakisaka S, Hirose S, Ikehara Y, Oda K
  • Journal Title: Traffic Volume: 11 Issue: 12 Pages: 1552-66
  • DOI: 10.1111/j.1600-0854.2010.01123.x
  • Peer Reviewed
• [Journal Article] Clinical features of Wilson disease: Analysis of 10 cases (2010)
  • Author(s): Takeyama Y, Yokoyama K, Takata K, Tanaka T, Sakurai K, Matsumoto T, Iwashita H, Ueda S, Hirano G, Hanano T, Nakane H, Morihara D, Nishizawa S, Yoshikane M, Anan A, Kakumitsu S, Kitamura Y, Sakamoto M, Irie M, Iwata K,Shakado S, Sohda T, Watanabe H, Hirose S, Hayashi H, Noritomi T, Yamashita Y, Sakisaka S.
  • Journal Title: Hepatol Res Volume: 40(12) Issue: 12 Pages: 1204-11
  • DOI: 10.1111/j.1872-034x.2010.00728.x
  • NAID: 10028172571
  • Peer Reviewed
• [Journal Article] Clinical study of childhood acute disseminated encephalomyelitis, multiple sclerosis, and acute transverse myelitis in FukuokaPrefecture (2010)
  • Author(s): Torisu H, Kira R, Ishizaki Y, Sanefuji M, Yamaguchi Y, Yasumoto S, Murakami Y, Shimono M, Nagamitsu S, Masuzaki M, Amamoto M, Kondo R, Uozumi T, Aibe M, Gondo K, Hanai T, Hirose S, Matsuishi T, Shirahata A, Mitsudome A, Hara T.
  • Journal Title: Japan. Brain Dev Volume: 32(6) Issue: 6 Pages: 454-62
  • DOI: 10.1016/j.braindev.2009.10.006
  • Peer Reviewed
• [Journal Article] Benign convulsions with mild gastroenteritis: is it associated with sodium channel geneSCN1A mutation? (2010)
  • Author(s): Weng WC, Hirose S, Lee WT
  • Journal Title: J Child Neurol Volume: 25(12) Issue: 12 Pages: 1521-4
  • DOI: 10.1177/0883073810370898
  • Peer Reviewed
• [Journal Article] Positive association between benign familial infantile convulsions and LG14 (2010)
  • Author(s): Hirose S, et al
  • Journal Title: Brain & Development Volume: 32 Pages: 538-543
  • Peer Reviewed
• [Journal Article] Genetic testing in the epilepsies Report of the ILAE Genetics Commission (2010)
  • Author(s): Hirose S, et al
  • Journal Title: Epilepsia Volume: 51(4) Pages: 655-670
  • Peer Reviewed
• [Journal Article] Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies (2010)
  • Author(s): Hirose S, et al
  • Journal Title: Journal of Human Genetics Volume: 55 Pages: 375-378
  • NAID: 10030735495
  • Peer Reviewed
• [Journal Article] Clinical features of Wilson disease : Analysis of 10 cases (2010)
  • Author(s): Hirose S, et al
  • Journal Title: Hepatology Research Volume: 40 Pages: 1204-1211
  • NAID: 10028172571
  • Peer Reviewed
• [Journal Article] Clinical study of childhood acute disseminated encephalomyelitis, multiple sclerosis, and acute transverse myelitis in Fukuoka Prefecture, Japan (2010)
  • Author(s): Hirose S, et al
  • Journal Title: Brain & Development Volume: 32 Pages: 454-462
  • NAID: 10027491651
  • Peer Reviewed
• [Journal Article] Benign Convulsions With Mild Gastroenteritis : Is It Associated With Sodium Channel Gene SCNIA Mutation? (2010)
  • Author(s): Hirose S, et al
  • Journal Title: J Child Neurol Volume: 25(12) Pages: 1521-1524
  • Peer Reviewed
• [Journal Article] Current Proceedings of Febrile Seizures and Related Epileptic Syndromes in SCN1A: from Bedside toBench. (2009)
  • Author(s): Chen S-J, Hirose S
  • Journal Title: J Med Sci Volume: 29(4) Pages: 167-72
  • Peer Reviewed
• [Journal Article] A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions (2009)
  • Author(s): Ishii A, Fukuma G, Uehara A, Miyajima T, Makita Y, Hamachi A, Yasukochi M, Inoue T, Yasumoto S, Okada M, Kaneko S, Mitsudome A, Hirose S.
  • Journal Title: Brain Dev Volume: 31(1) Issue: 1 Pages: 27-33
  • DOI: 10.1016/j.braindev.2008.05.010
  • NAID: 10025578186
  • Peer Reviewed
• [Journal Article] Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsyphenotype severity. (2009)
  • Author(s): Kanai K, Yoshida S, Hirose S, Oguni H, Kuwabara S, Sawai S, Hiraga A, Fukuma G, Iwasa H, Kojima T, Kaneko S.
  • Journal Title: J Med Genet. Volume: 46(10) Issue: 10 Pages: 671-9
  • DOI: 10.1136/jmg.2008.060897
  • Peer Reviewed
• [Journal Article] Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus. (2009)
  • Author(s): Kumakura A, Ito M, Hata D, Oh N, Kurahashi H, Wang JW, Hirose S
  • Journal Title: Brain Dev Volume: 31(2) Issue: 2 Pages: 179-82
  • DOI: 10.1016/j.braindev.2008.06.001
  • NAID: 10025578995
  • Peer Reviewed
• [Journal Article] Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatalseizures (2009)
  • Author(s): Kurahashi H, Wang JW, Ishii A, Kojima T, Wakai S, Kizawa T, Fujimoto Y, Kikkawa K, Yoshimura K, Inoue T, Yasumoto S, Ogawa A, Kaneko S, Hirose S.
  • Journal Title: Neurology Volume: 73(15) Pages: 1214-7
  • Peer Reviewed
• [Journal Article] Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy. (2009)
  • Author(s): Sakakibara T, Nakagawa E, Saito Y, Sakuma H, Komaki H, Sugai K, Sasaki M, Kurahashi H, Hirose S.
  • Journal Title: Epilepsia Volume: 50(9) Issue: 9 Pages: 2158-62
  • DOI: 10.1111/j.1528-1167.2009.02175.x
  • Peer Reviewed
• [Journal Article] Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome (2009)
  • Author(s): Shi X, Yasumoto S, Nakagawa E, Fukasawa T, Uchiya S, Hirose S
  • Journal Title: BrainDev Volume: 31 Issue: 10 Pages: 758-62
  • DOI: 10.1016/j.braindev.2009.08.009
  • NAID: 10026413050
  • Peer Reviewed
• [Journal Article] Lack of potassium current in W309R mutant KCNQ3 channel causing 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 Volume: 84(1) Issue: 1 Pages: 82-5
  • DOI: 10.1016/j.eplepsyres.2008.12.003
  • Peer Reviewed
• [Journal Article] Current Proceedings of Febrile Seizures and Related Epileptic Syndromes in SCN1A : from Bedside to Bench (2009)
  • Author(s): Chen S-J, Hirose S.
  • Journal Title: J Med Sci 29(4) Pages: 167-172
  • Peer Reviewed
• [Journal Article] A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions (2009)
  • Author(s): Hirose S., et al.
  • Journal Title: Brain Dev 31(1) Pages: 27-33
  • NAID: 10025578186
  • Peer Reviewed
• [Journal Article] Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity (2009)
  • Author(s): Hirose S., et al.
  • Journal Title: J Med Genet 46(10) Pages: 671-9
  • Peer Reviewed
• [Journal Article] Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome (2009)
  • Author(s): Hirose S., et al
  • Journal Title: Brain Dev 31 Pages: 758-62
  • NAID: 10026413050
  • Peer Reviewed
• [Journal Article] Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions(BFNC) (2009)
  • Author(s): Hirose S., et al
  • Journal Title: Epilepsy Res 84(1) Pages: 82-5
  • Peer Reviewed
• [Journal Article] Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy (2009)
  • Author(s): Hirose S., et al.
  • Journal Title: Epilepsia 50(9) Pages: 2158-62
  • Peer Reviewed
• [Journal Article] Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus (2009)
  • Author(s): Hirose S., et al.
  • Journal Title: Brain Dev 31(2) Pages: 179-82
  • NAID: 10025578995
  • Peer Reviewed
• [Journal Article] Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures (2009)
  • Author(s): Hirose S., et al
  • Journal Title: Neurology 73(15) Pages: 1214-7
  • Peer Reviewed
• [Presentation] Aoutosomal Dominant Nocturnal Frontal Lobe Epilepsy : A Genotypic Comparative Study of Japanese and Korean Families Carrying the CHRNA4 Ser284Leu Mutation (2011)
  • Author(s): Su-Kyeong Hwang Makita Y., Kurahashi H., Yong-Won Cho, Hirose S
  • Organizer: KES韓国てんかん学会
  • Place of Presentation: 仁川
  • Year and Date: 2011-06-24
• [Presentation] Guideline for genetic diagnosis for epilepsy (2011)
  • Author(s): Hirose S
  • Organizer: KES韓国てんかん学会
  • Place of Presentation: 仁川(招待講演)
  • Year and Date: 2011-06-24
• [Presentation] Update for genetics of epilepsy plenary session (2011)
  • Author(s): Hirose S
  • Organizer: KES韓国てんかん学会
  • Place of Presentation: 仁川(招待講演)
  • Year and Date: 2011-06-24
• [Presentation] Genetically engineered animal models for epilepsy "Basic Science Session (2011)
  • Author(s): Hirose S
  • Organizer: KES韓国てんかん学会
  • Place of Presentation: 仁川(招待講演)
  • Year and Date: 2011-06-24
• [Presentation] The development of the DNA chip which aimed at the clinical application in epilepsy (2011)
  • Author(s): Sugawara T., Yoshida S., Wada K., Hirose S., Iwasa H., Kaneko S.
  • Organizer: 29^<th> International Epilepsy Congress
  • Place of Presentation: Roma
• [Presentation] Steroid pulse therapy as an effective treatment for refractory epilepsy in children with glutamate receptor (GluR) antibodies (2011)
  • Author(s): Yasumoto S., Ihara Y., Fujita T., Tomonoh Y., Ninomiya S., Nakamura N., Ideguchi H., Inoue T., Takahashi Y., Hirose S.
  • Organizer: 29^<th> International Epilepsy Congress
  • Place of Presentation: Roma
• [Presentation] Prior administration of urinastatin decrease the total dosage of gamma-glolin in early stage Kawasaki disease (2011)
  • Author(s): Yosikane Y, Hashimoto J, Ueda M, Ogawa A, Hirose S
  • Organizer: 45^<th> Annual ameeting of the ssociation for European
  • Place of Presentation: Spain Granada
• [Presentation] Clinical usefulness of Genetic Advances in Childhood Epilepsy (2010)
  • Author(s): 廣瀬伸一
  • Organizer: Postgraduate Institude of Medical Education & Research
  • Place of Presentation: インド チャンディガ
  • Year and Date: 2010-12-28
• [Presentation] Transgenic rat models for epilepsy (2010)
  • Author(s): 廣瀬伸一
  • Organizer: ASEPA workshop
  • Place of Presentation: オーストラリア メルボルン
  • Year and Date: 2010-10-20
• [Presentation] Genetic variants associated with epilepsy causation (2010)
  • Author(s): 廣瀬伸一
  • Organizer: The 8^<th> Asian & Oseanian Epilepsy Congress
  • Place of Presentation: オーストラリア メルボルン
  • Year and Date: 2010-10-18
• [Presentation] Genetics of Human Epilepsy (2010)
  • Author(s): 廣瀬伸一
  • Organizer: National Institute of Neurological Disorders and Stroke
  • Place of Presentation: San Diego アメリカ
  • Year and Date: 2010-08-30
• [Presentation] てんかん遺伝子研究の進歩とその臨床応用 (2010)
  • Author(s): 廣瀬伸一
  • Organizer: 南大阪小児疾患研究会
  • Place of Presentation: 大阪
  • Year and Date: 2010-02-06
• [Presentation] てんかん遺伝子研究の進歩とその臨床応用 (2010)
  • Author(s): 廣瀬伸一
  • Organizer: 南大阪小児疾患研究会
  • Place of Presentation: 大阪 近畿大学大阪狭山キャンパス
  • Year and Date: 2010-02-06
• [Presentation] Complications in a metachromatic leukodystrophy(MLD) patient's long-term-follow up:neurologic complications./ Takahito Inoue (2010)
  • Author(s): Michitaka Yonekura, Takako Fujita, Yukiko Ihara, Yuko Tomonoh, Hitoshi Ideguchi, Sawa Yasumoto, Shiho Kodama, Shinichi Hirose.
  • Organizer: The 1st Asian Congress for Inherited Metabolic Diseases
  • Place of Presentation: 福岡
• [Presentation] The Neurological prognosis of organic academia (2010)
  • Author(s): Takako Fujita, Yukiko Ihara, yuko Tomonoh, Shinya Ninomiya, Yurie Kodama, Hitoshi Ideguchi, Takahito Inoue, Sawa Yasumoto, Shinichi Hirose
  • Organizer: The 1st Asian Congress for InheritedMetabolic Diseases
  • Place of Presentation: 福岡
• [Presentation] A Neuronal Ceroid-Lipofuscinosis case with Epilepsy and Sick Sinus Syndrome (2010)
  • Author(s): Yukiko Ihara, Yuko Tomonoh, Takako Fujita, Hiroshi Ideguchi, Takahito Inoue, Sawa Yasumoto, Shinichi Hirose
  • Organizer: The 1st Asian Congress for Inherited Metabolic Diseases
  • Place of Presentation: 福岡
• [Presentation] Progressive mycolonus epilepsy due to Gaucher disease type 3 without hepatosplenomegaly (2010)
  • Author(s): Norimichi Higurashi, Shin-ichiro Hamano, Asako Tajima, Toya Ohashi, Hiroyuki Ide, Shinichi hirose
  • Organizer: The 1st Asian Congressfor Inherited Metabolic Diseases
  • Place of Presentation: 福岡
• [Presentation] てんかんの遺伝子研究の進歩とその臨床応用 (2009)
  • Author(s): 廣瀬伸一
  • Organizer: 第21回山梨神経学研究会学術講演会
  • Place of Presentation: 山梨
  • Year and Date: 2009-06-02
• [Presentation] てんかんの遺伝子研究の進歩とその臨床応用 (2009)
  • Author(s): 廣瀬伸一
  • Organizer: 第21回山梨神経学研究会学術講演会
  • Place of Presentation: 山梨 古奈屋ホテル
  • Year and Date: 2009-06-02
• [Presentation] Genetics of febrile Serizures and Related Conditions (2009)
  • Author(s): Hirose S
  • Organizer: 10th Asian & Oseanian Cogress of Child Nuerology
  • Place of Presentation: Korea
• [Presentation] Genetics of febrile Serizures and Related Conditions (2009)
  • Author(s): 廣瀬伸一
  • Organizer: 10^<th> Asian & Oseanian Cogress of Child Nuerology
  • Place of Presentation: Daegu, Korea Interburgu-EXCO Hotel
• [Remarks]
  • URL: http://www.med.fukuoka-u.ac.jp/epilepsy/
• [Patent(Industrial Property Rights)] 注意欠陥/多動性障害モデル非ヒト哺乳動物 (2009)
  • Inventor(s): 廣瀬伸 一 、高崎浩太郎
  • Industrial Property Rights Holder: 福岡大学
  • Industrial Property Number: 2009-188152
  • Filing Date: 2009-08-14
• [Patent(Industrial Property Rights)] 注意欠陥/多動性障害モデル非ヒト哺乳動物 (2009)
  • Inventor(s): 廣瀬伸一, 高崎浩太郎
  • Industrial Property Rights Holder: 福岡大学
  • Industrial Property Number: 2009-188152
  • Filing Date: 2009-08-14