てんかんの分子病態の解析

2008 Fiscal Year Annual Research Report

• Project/Area Number: 16109006
• Research Institution: Hirosaki University
• Principal Investigator: 兼子 直 Hirosaki University, 大学院・医学研究科, 教授 (40106852)
• Co-Investigator(Kenkyū-buntansha): 上野 伸哉 弘前大学, 大学院・医学研究科, 教授 (00312158) ; 岡田 元宏 三重大学, 大学院・医学系研究科, 教授 (10281916) ; 小島 俊男 理化学研究所, ゲノム情報比較解析研究チーム, チームリーダー (00311340) ; 廣瀬 伸一 福岡大学, 医学部, 教授 (60248515) ; 中川 和子 熊本大学, 大学院・医学薬学研究部, 教授 (20284747)
• Keywords: ゲノム / シグナル伝達 / 脳神経学 / 脳神経疾愚 / 遺伝子

Research Abstract

1. 新たなてんかんの責任遺伝子同定 : これまで遺伝子異常を同定できなかったSMEI症例の20%にSCNIAや近接の遺伝子にchromosomal microdeletionが存在すること、JME患者で新たなMyolomin1/EFHC1遺伝子異常、孤発性のBNCでde novo KCNQ2の変異を報告し、BFICとLGI4遺伝子多型の関連を同定した。2. SCN1A遺伝子変異とてんかんの重症度の関連は、アミノ酸置換に関与するpolarity、molecular volume、polar requirement、hydropathy、isomeric pointの解析から推定できることを見いだした。3. てんかんの分子病態の解析 : 前頭葉てんかん遺伝子導入遺伝子改変ラット(S284L-TG)が世界初のモデル動物としての3基準をクリアしたラットであることを証明した。4. S284L-TGでてんかんの根治療法の可能性、根治療法のための標的タンパク群、治療臨界期の存在を同定した。より副作用の少ない治療コンパウンドを探索中である。またBFNCの責任遺伝子KCNQ3のW309R変異ではK^+電流が発生しないことを明らかにした。5. NONMEM法により、carbamazepine、clobazam、zonisamide、phenobarbitalのタリアランスを生理因子(年齢、性別、体重)、環境因子(AED投与量、併用薬)、遺伝因子(CYP多型)から算出するモデルを設定した。6. 世界に先駆けて開発したプロトタイプのてんかん遺伝子診断用DNA chip (resequence type)の最適な条件の設定、機能チェックを行っており、既にこのchipで、てんかん症例からSCN1Aの新たな変異を同定した。7. 個別化治療開発に必要な情報(AEDの作用機序、てんかんの責任遺伝子、CYP, transporter、脳内作用点の多型、HONMEMによるAEDクリアランスモデル)の整理、遺伝子異常毎のAEDへの反応性予測、AED治療に重要なCYP、transporterを選定した。遺伝情報に基づく個別化治療システムの基本フレームは2009年10月の国際シンポジウムPharmacogenomics in Epilepsyで提案する。

Research Products

• [Journal Article] Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (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 (in press)
  • Peer Reviewed
• [Journal Article] Topiramate and zonisamide prevent paradoxical intoxication induced by carbamazepine and phenytoin (2009)
  • Author(s): Yamamura S, Hamaguchi T, Ohoyama K, Sugiura Y, Suzuki D, Kanehara S, Nakagawa M, Motomura E, Matsumoto T, Tanii H, Shiroyama T, Okada. M.
  • Journal Title: Epilepsy Res (in press)
  • Peer Reviewed
• [Journal Article] Effects of zotepine on extracellular levels of monoamine, GABA and glutamate in rat prefrontal cortex (2009)
  • Author(s): Yamamura S, Ohoyama K, Hamaguchi T, Nakagawa M, Suzuki D, Matsumoto T, Motomura E, Tanii H, Shiroyama T, Okada M
  • Journal Title: Br J Pharmacol (in press)
  • Peer Reviewed
• [Journal Article] Effects of zonisamide on neurotransmitter release associated with inositol triphosphate receptors (2009)
  • Author(s): Yamamura S, Saito. H, Suzuki N, kashimoto S, Hamaguchi H, Ohoyama K, Suzuki D, Kanehara S, Nakagawa M, Shiroyama T, Okada M.
  • Journal Title: Neurosci Lett (In press)
  • 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 31(1) Pages: 27-33
  • Peer Reviewed
• [Journal Article] DSCAM deficiency causes loss of pre-inspiratoru neuron synchroneity and perinatal death (2009)
  • Author(s): Amano K, Fujii M, Arata S, Tojima T, Ogawa M, Shimohata A, Furuichi T, Itohara S, Kamiguchi H, Korenberg J. R, Arata A, Yamakawa K.
  • Journal Title: J Neurosci 29(9) Pages: 2984-96
  • Peer Reviewed
• [Journal Article] Efhcl deficiency causes spontaneous myoclonus and increasedse izure susceptibility (2009)
  • Author(s): Suzuki T, Miyamoto H, Nakahari T, Inoue I, Suemoto T, Jiang B, Hirota Y, Itohara S, Saido TC, Tsumoto T, Sawamoto K, Hensch TK, Delgado-Escueta AV, and Yamakawa K.
  • Journal Title: Hum. Mol Genet 18(6) Pages: 1099-1109
  • 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 31(2) Pages: 179-82
  • Peer Reviewed
• [Journal Article] Two novel CYP2D6*10 haplotypes as possible causes of a poor metabolic phenotype in Japanese (2009)
  • Author(s): Matsunaga M, Yamazaki H, Kiyotani K, Iwano S, Saruwatari J, Nakagawa K, Soyama A, Ozawa S, Sawada J, Kashiyama E, Kinoshita M, Kamataki T.
  • Journal Title: Drug Metab Dispos 37(4) Pages: 699-701
  • Peer Reviewed
• [Journal Article] Sequence Sehection for Multiple Alignments of Transmembrane Proteins (2009)
  • Author(s): Nishio T, Ohta T, Kaneko S, and Shimizu T.
  • Journal Title: Information 12 Pages: 235-42
  • Peer Reviewed
• [Journal Article] Glutathione S-transferase Al polymorphism as a risk factor for smoking-related type 2 diabetes in Japanese (2009)
  • Author(s): Oniki K, Umemoto Y, Nagata R, Hori M, Mihara S, Marubayashi T, Nakagawa K.
  • Journal Title: Toxicol Lett 178 Pages: 143-5
  • Peer Reviewed
• [Journal Article] Association between SCN1A polymorphism and carbamazepine-resistant epilepsy (2008)
  • Author(s): Abe T, Seo T, Ishitsu T, Nakagawa T, Hori M, Nakagawa K.
  • Journal Title: Br J Clin Pharmacol 66 Pages: 304-307
  • Peer Reviewed
• [Journal Article] Association between glutathione S-transferase A1, M1 and T1 polymorphisms and hypertension (2008)
  • Author(s): Oniki K, Hori M, Takata K, Yokoyama T, Mihara S, Marubayashi T. Nakagawa K.
  • Journal Title: Pharmacogenet Genomics 18 Pages: 275-7
  • Peer Reviewed
• [Journal Article] Glutathione-S-transferase (GST) M1 null genotype and combined GSTM1 and GSTT1 null genotypes are risk factors for elevated serum γ-glutamyltransferase in valproic acid-treated patients (2008)
  • Author(s): Fukushima Y, Seo T, Hashimoto N, Higa Y, Ishitsu T, Nakagawa K.
  • Journal Title: Clin Chim Acta 389 Pages: 98-102
  • Peer Reviewed
• [Journal Article] ABCC2 haplotype is not associated with drug-resistant epilepsy (2008)
  • Author(s): Seo T, Ishitsu T, Oniki K, Abe T, Shuto T, Nakagawa K.
  • Journal Title: J Pharm Pharmacol 60 Pages: 631-5
  • Peer Reviewed
• [Journal Article] Potential relationships between transaminase abnormality and valproic acid clearance or serum carnitine concentrations in Japanese epileptic patients (2008)
  • Author(s): Goto S, Seo T, Hagiwara T, Ueda K, Yamauchi T, Nagata S, Ando Y, Ishitsu T, Nakagawa K.
  • Journal Title: J Pharm Pharmacol 60 Pages: 267-72
  • Peer Reviewed
• [Journal Article] Interactive effect of smoking and paraoxonase-1 genotype on the lung function decline (2008)
  • Author(s): Seo T, Pahwa P, McDuffie HH, Y, Nakada N, Goto S, Ghosh S, Nakagawa K.
  • Journal Title: Ann Epidemiol 18 Pages: 330-4
  • Peer Reviewed
• [Journal Article] Cytochrome P450 2C19 polymorphisms have an impact on the efficacy of clobazam therapy (2008)
  • Author(s): Seo T, Nagata R, Ishitsu T, Takaishi C, Hori M, Nakagawa K.
  • Journal Title: Pharmacogenomics 9 Pages: 527-37
  • Peer Reviewed
• [Journal Article] Population estimation of the effects of cytochrome P450 2C19 and 3A5 polymorphisms on zonisamide clearance (2008)
  • Author(s): Okada Y, Seo T, Wanibuchi A, Hashimoto N, Higa Y, Ishitsu T, Nakagawa K.
  • Journal Title: Ther Drug Monit 30 Pages: 540-3
  • Peer Reviewed
• [Journal Article] Genome-wide identification of febrile seizure and related epilepsy phenotype loci (2008)
  • Author(s): Yoshida S, Miyashita A, Kuwano R, Kojima T, Sasaki T, Zhu G, Kanai K, Fujita H, Hirosa S, Kaneko S, & Epilepsy Genetic Study Group Japan.
  • Journal Title: Epilepsy & Seizure 1(1) Pages: 30-9
  • Peer Reviewed
• [Journal Article] Development of individualized medicine for epilepsy based on genetic information (2008)
  • Author(s): Kaneko S, Yoshida S, Kanai K, Yasui-Furukori N, & Iwasa H.
  • Journal Title: Expert Rev Clin Pharmacol 1(5) Pages: 661-81
  • Peer Reviewed
• [Journal Article] Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype (2008)
  • Author(s): Zhu G, Okada M, Yoshida S, Ueno S, Mori F, Takahata T, Saito R, Miura Y, Kishi A, Tomiyama M, Sato A, Kojima T, Fukuma G, Wakabayashi K, Hase K, Ohno H, Kijima H, Takano Y, Mitsudome A, Kaneko S, Hirose S.
  • Journal Title: J Neurosci 28(49) Pages: 12465-76
  • Peer Reviewed
• [Journal Article] Bemegride lengthens seizure duration electric convulsive therepy in a schizophrenic patients with increased seizure threshold (2008)
  • Author(s): Katagai H, Yasui-Furukori N, Kikuchi A, Kaneko S.
  • Journal Title: J ECT (Epub ahead of print)
  • Peer Reviewed
• [Journal Article] Memory trace dependence onnumber of stimuli in magnetic mismatch negativity (2008)
  • Author(s): Matsuoka T, Yabe H, Asai R, Hara E, Kaneko S.
  • Journal Title: Neuroreport 19(10) Pages: 1003-7
  • Peer Reviewed
• [Journal Article] Comparative in vivo bioequivalence and in vitro dissolution of two valproic acid sustained-release formulation (2008)
  • Author(s): Fujii A, Yasui-Furukori N, Nakagami T, Niioka T, Saito M, Sato Y, and Kaneko S.
  • Journal Title: Design, Development & Therapy Drug 2 Pages: 139-44
  • Peer Reviewed
• [Journal Article] Dipole Source Analysis of Temporal Slow Waves in the Elderly (2008)
  • Author(s): Motomura E, Inui K, Ogawa H, Nakase S, Hamanaka K, Honda T, Shiroyama T, Matsumoto T, Komori T, Okada M, Kakigi R.
  • Journal Title: Neuropsychobiology 57 Pages: 9-13
  • Peer Reviewed
• [Journal Article] Associations between psychotic-like experiences and mental health status and other psychopathologies among Japanese early teens (2008)
  • Author(s): Nishida A, Tanii H, Nishimura Y, Kajiki N, Inoue K, Okada M, Sasaki T, Okazaki Y.
  • Journal Title: Schizophr Res 99 Pages: 125-33
  • Peer Reviewed
• [Journal Article] A functional near-infrared spectroscopy study on the basic word order in Japanese (2008)
  • Author(s): Nishimura Y, Sugisaki K, Hattori N, Inokuchi Y, Nishimura Y, Ogawa M, Okada M, Okazaki Y, Taki W, Yamamoto T, Yoshida E, Avano S.
  • Journal Title: Neuroreport 19 Pages: 915-19
  • Peer Reviewed
• [Journal Article] Caffeine-inducible ATP release is mediated by Ca^<2+>-signal trans ducins system from the endonlasmic reticulum to mitochondria (2008)
  • Author(s): Katsuragi T, Sato C, Ueho S, Segawa M, and Migita K.
  • Journal Title: Naunyn Schmiedebergs Arch Pharmac ol 387(1) Pages: 93-101
  • Peer Reviewed
• [Journal Article] Developmental changes in KCNQ2 and KCNQ3 expression in human brain : possible contribution to the age-dependent etiology of benign familial neonatal convulsions (2008)
  • Author(s): Kanaumi T, Takashima S, Iwasaki H, Itoh M, Mitsudome A, Hirose S.
  • Journal Title: Brain Dev 30(5) Pages: 362-9
  • Peer Reviewed
• [Journal Article] Altered KCNQ3 potassium channel function caused by the W309R pore-helix mutation found in human epilepsy (2008)
  • Author(s): Uehara A, Nakamura Y, Shioya T, Hirose S, Yasukochi M, Uehara K.
  • Journal Title: J Membr Biol 222(2) Pages: 55-63
  • Peer Reviewed
• [Journal Article] Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy (2008)
  • Author(s): Wang JW, Kurahashi H, Ishii A, Kojima T, Ohfu M, 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
  • Peer Reviewed
• [Journal Article] A new family of transcription factors (2008)
  • Author(s): Yamada Y, Wang H. Y, Fukuzawa M, Barton G. J. and Williams, JG
  • Journal Title: Development 135 Pages: 3093-101
  • Peer Reviewed
• [Journal Article] Novel mutations in Myocloninl/EFHC1 in sporadic and tamilial juvenile myoclonic epilepsy (2008)
  • Author(s): Medina MT, Suzuki T, Alonso ME, Duron RM, Matinaz IE, Bailey JN, Bai D, Inoue Y, Yoshimura I, Kaneko S, Montoya MC, Ochoa AJ, Tanaka M, Machado-Salas J, Fujimoto S, Ito M, Hamano S, Sugita K, Ueda Y, Osawa M, Oguni H, Rubio-Donnadieu F, Yamakawa K, and Deidacio-Escueta AV.
  • Journal Title: Neurology 70(22 pt 2) Pages: 2137-44
  • Peer Reviewed
• [Journal Article] Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features (2008)
  • Author(s): Miyama S, Goto T, Inoue Y, Yamakawa K.
  • Journal Title: Pediat Neurol 39(2) Pages: 120-2
  • Peer Reviewed
• [Journal Article] Sequential expression of Efhcl/myocloninl in choroid plexus and ependymal cell cilia (2008)
  • Author(s): Suzuki T, Inoue I, Yamagata T, Morita N, Furuichi T, Yamakawa K.
  • Journal Title: Biochem Biophys Res Commun 367 Pages: 226-33
  • Peer Reviewed
• [Journal Article] Association study between the Down syndrome cell adhesion molecule (DSCAM) gene and bipolar disorder (2008)
  • Author(s): Amano K, Yamada K, Iwayama Y, Detera-Wadleigh SD, Hattori E, Toyota T, Tokunaga K, Yoshikawa T, Yamakawa K.
  • Journal Title: Psychiatr Genet 18 Pages: 1-10
  • Peer Reviewed
• [Journal Article] Performance Evaluation of Loop-Structured-Computer by Applying Pairwise Seauence Alignment (2008)
  • Author(s): Ichijo K, Kikuchi N, Yoshioka Y, and Shimizu T.
  • Journal Title: Information 11 Pages: 351-62
  • Peer Reviewed
• [Journal Article] DNA variants in coding region of EFHC1 : SNPs do not associate with juvenile myoclonic epilepsy
  • Author(s): Bai D, Bailey JN, Duron RM, Alonso ME, Medina MT, Martinez-Juarez IE, Suzuki T, Machado-Salas J, Ramos-Ramirez R, Tanaka M, Ortega RH, Lopez-Ruiz M, Rasmussen A, Ochoa A, Jara-Prado A, Yamakawa K, Delgado-Escueta AV.
  • Journal Title: Epilepsia (Epub ahead of print)(掲載確定)
  • Peer Reviewed
• [Presentation] Effects of Genetic Polymorphisms And Occupational Exposure to Canary Seed Dust on Longitudinal decline in pulmonary function (2008)
  • Author(s): Pahwa P, Nakagawa K, Koehncke N, McDuffie HH.
  • Organizer: The Sixth International Symposium : Public health and the agricultural rural ecosystem
  • Place of Presentation: Saskatoon, Canada
  • Year and Date: 20081019-23
• [Presentation] Association between high-risk genotypes of glutathione S-trans ferases and type 2 diabetes mellitus, non-alcoholic fatty liver disease and hypertension (2008)
  • Author(s): Nakagawa K, Fujimura Y, Umemoto Y, Oniki K, Seo T, Mihara S, Marubavashi T.
  • Organizer: The Sixth International Symposium : Public health and the agricultural rural ecosystem
  • Place of Presentation: Saskatoon, Canada
  • Year and Date: 20081019-23
• [Presentation] Applicability of new spin trap agent, 2-diphenylphosphinoyl-2-methyl-3, 4-dihydro-2H-pyrrole N-oxide, in biological system (2008)
  • Author(s): Karakawa T, Muramoto Y, Mitani Y, Kitamado M, Iwanaga T, Nabeshima T, Maruyama K, Nakagawa K, Ishida K, Sasamoto K, Sato K.
  • Organizer: A Joint Conference of the 13th In Vivo ESR/EPR Spectroscopy & Imaging and the 10th International EPR Spin Trapping/Spin Labeling : Biomedical Redox Navigation (EPR2008)
  • Place of Presentation: Fukuoka, JAPAN
  • Year and Date: 20080927-30
• [Presentation] Superoxide scavenging activity of pirfenidone-iron complex (2008)
  • Author(s): Mitani Y, Muramoto Y, Karakawa T, Kitamado M, Iwanaga T, Nabeshima T, Maruyama K, Nakagawa K, Ishida K, Sasamoto K, Sato K.
  • Organizer: A Joint Conference of the 13th In Vivo ESR/EPR Spectroscopy & Imaging and the 10th Inte rnational EPR Spin Trapping/Spin Labeling : Biomedical Redox Navigation (EPR2008)
  • Place of Presentation: Fukuoka, JAPAN
  • Year and Date: 20080927-30
• [Presentation] A new mode of prespore gene regulation : DdMybF functions as a reoressor for nresnore differentiation (2008)
  • Author(s): Tomita K, Fukuzawa M.
  • Organizer: Dictyostelium international conference
  • Place of Presentation: Tsukuba, Japan
  • Year and Date: 20080822-28
• [Presentation] A novel differentiation inducing factor with low molecular weight in Dictyostelium discoideum : its purifi cation and characte rization (2008)
  • Author(s): Takaya Y, Fukuzawa M, Hotta R, Nakagawa M, Oohata AA.
  • Organizer: Dictyostelium international conference
  • Place of Presentation: Tsukuba, Japan
  • Year and Date: 20080822-28
• [Presentation] Dictyostelium PKB/AKT related kinase may function as an activator for a putative switch of stalk formation (2008)
  • Author(s): Ochiai H, Koki, Nagayama K, Takeda K, Fukuzawa M, Takiya S, Ohmachi T.
  • Organizer: Dictyostelium international conference
  • Place of Presentation: Tsukube, Japan
  • Year and Date: 20080822-28
• [Presentation] The present Status and Problem of Plenatal Screening of Congenital Heart Defects ; 4 Major Refernal Centers in Kyusyu, Japan (2008)
  • Author(s): Yoshikane Y, Yoshizato T, Maeno Y, Nishibatake M, Kam N, Fusazaki N, Hirose S.
  • Organizer: The 2^<nd> Asia-Pacific Congress of Pediatrics Cordiology and Cardiac Surgery
  • Place of Presentation: Korea
  • Year and Date: 20080527-30
• [Presentation] Retrospective Analysis of Prenatally Detected Congenital Heart Defects : Six-year Experience of 4 Institutions in Japan (2008)
  • Author(s): Yashikane Y, Yoshizato T, Meno Y, Nishibatake M, Kan N, Fusazaki N, Hirose S.
  • Organizer: 15^<th> Congress of the FAOPS
  • Place of Presentation: Nagoya, JAPAN
  • Year and Date: 20080520-24
• [Presentation] Study of Septicemia Due to Enterbacter Cloacae in a Tertiary Neonatal Intensive Care Unit during 1997-2007 (2008)
  • Author(s): Ohta E, Setoue T, Tsutsumi M, Inoue S, Kinoshita R, Nakamura M, Mori T, Ogawa A, Hirose S.
  • Organizer: 15^<th> Congress of the FAOPS
  • Place of Presentation: Nagoya, JAPAN
  • Year and Date: 20080520-24
• [Presentation] Prognoses of the Neonates of Multiple Births Admitted in NICU in recent Years (2008)
  • Author(s): Inoue T, Tsutsumi M, Kiposhita R, Ohta E, Nakamura M, Mori T, Hirose S.
  • Organizer: 15^<th> Congress of the FAOPS
  • Place of Presentation: Nagoya, JAPAN
  • Year and Date: 20080520-24
• [Presentation] Genomo-waide identification of febrile seizure and related epilepsy phenotype loci (2008)
  • Author(s): Yoshida S, Miyashita A, Kuwano R, Kojima T, Zhu G, Kanai K, Fujita K, Hirano S, and Kaneko S.
  • Organizer: 7^<th> Asian & Oceanian Epilepsy Congress
  • Place of Presentation: Xiamen. CHINA
  • Year and Date: 20080515-18
• [Presentation] Determination of neurotransmitter release in a novel spontaneous epilepsy model, Prip-1 knockout mice (2008)
  • Author(s): Zhu G, Okada M, Yoshida S, Ueno S, Wakabayashi K, and Kaneko S.
  • Organizer: 7^<th> Asian & Oceanian Epilepsy Congress
  • Place of Presentation: Xiamen, CHINA
  • Year and Date: 20080515-18
• [Presentation] The Application of Genetic Tests for Epilepsy-are there Guidelines for Clinicians? (2008)
  • Author(s): Hirose S
  • Organizer: 7^<th> Asian & Oceanian Epilepsy Congress Xiamen
  • Place of Presentation: Xiamen, CHINA
  • Year and Date: 20080515-18
• [Presentation] EEG Findings on Headache with MELAS (2008)
  • Author(s): Ihara Y, Fujita T, Inoue T, Yasumoto S, Mitsudome A, Hirose S.
  • Organizer: 7^<th> Asian & Oceanian Epilepsy Congress Xiamen
  • Place of Presentation: Xiamen, CHINA
  • Year and Date: 20080515-18
• [Presentation] Myoclonic-Astatic Epilepsy with Focal Spike Discharge may have Unfavourable Prognosis (2008)
  • Author(s): Ideguchi H, Inoue T, Ninomiya S, Fujita T, Nakamura N, Yasumoto S, Hirose S.
  • Organizer: 7^<th> Asian & Oceanian Epilepsy Congress Xiamen
  • Place of Presentation: Xiamen, CHINA
  • Year and Date: 20080515-18
• [Presentation] Non-convulsive Status Epilepticuso of Temporal Lobe Epilepsy Misdiagnosed as a Psychosomatic Disease (2008)
  • Author(s): Fujita T, Nakamura N, Inoue T, Ninomiya S, Ihara Y, Tomonou Y, Ideguchi H, Yasumoto S. Mitsudome A. Hirose S.
  • Organizer: 7^<th> Asian & Oceanian Epilepsy Congress Xiamen
  • Place of Presentation: Xiamen, CHINA
  • Year and Date: 20080515-18
• [Presentation] Psychomotor Retardation Aggravated by Infantile Non-convpislve Status Epileptics in Angelman Syndrome (2008)
  • Author(s): Ninomiya S, Nakamura N, Fujita T, Ideguchi H, Inoue T., Yasumoto S, Hirose S.
  • Organizer: 7^<th> Asian & Oceanian Epilepsy Congress Xiamen
  • Place of Presentation: Xiamen, CHINA
  • Year and Date: 20080515-18
• [Presentation] A De Novo KCNQ2 Mutation Detected in Benign Neonatal Convulsions : Possible Involvement Of Genes responsible for Rare Inherited Epilepsy in Idiopathic Epilepsy (2008)
  • Author(s): Ishii A, Fukuma G, Uehara A, Yasukochi M, Miyajima T, Makita Y, Hamachi A, Yonetani M, Inoue T, Okada M, Kaneko S, and Hirose S.
  • Organizer: The 4^<th> Congress of Asian Society for Pediatric Research
  • Place of Presentation: Hawaii, USA
  • Year and Date: 20080503-06
• [Presentation] Perinatal Characteristics of Early-Onset Sepsis in Neonatal Intensive Care Unit in Recent Years (2008)
  • Author(s): Tsutsumi M, Ohta E, Inoue T, Kinoshita R, Nakamura M, Mori T. Hirose S.
  • Organizer: The 4^<th> Congress of Asian Society for Pediatric Research
  • Place of Presentation: Hawaii, USA
  • Year and Date: 20080503-06
• [Presentation] S6 : Pharmacogenomics based personalized pharmacotherapy : Development of individualized medicine for epilepsy based upon gene tic polymorphisms : Potential in the combination of various res earch approaches (2008)
  • Author(s): Kaneko S, Yoshida S, Kanai K, Iwasa H, Yasui-Furukori N, and Epilepsy Genetic Study Group Japan
  • Organizer: 2008 International Conference on Pharmacogenomics (Joint Conference with the 14^<th> Annual Meeting of the PRACP)
  • Place of Presentation: Busan, KOREA
  • Year and Date: 20080409-12
• [Presentation] Allele frequencies of CYP2C19 and CYP2D6 in a Japanese population (2008)
  • Author(s): Yasui-Furukori N, Uemichi T, Nobori T, Mizuno M, Shirahama S, Miyoshi Y, and Kaneko S.
  • Organizer: 2008 International Conference on Pharmacoge nomics (Joint Conference with the 14^<th> Annual Meeting of the PRACP)
  • Place of Presentation: Busan, KOREA
  • Year and Date: 20080409-12
• [Book] Progress in genetics of severe myoclonic epilepsy in fancy. In : Fukuyama Y, Takahashi T, editors. Progress in Epileptic Disorders Biology of Seizere Susceptibility in Developing Brain. 1-3 (2008)
  • Author(s): Kurahashi K, Wang J, Ishii A, Fukuma G, Hamachi A, Yonetani M, Ogawa A, Ohfu M, Inoue T, Yasumoto S, Hirose S.; 2008
  • Total Pages: 734
  • Publisher: Paris : Editions John Libbey Eurotext Montrouge
• [Book] Roadmap抗精神病薬の精神薬理を生かした重度精神疾患個別化治療(ed. by Peter JW et.al. Translating the psychopharmacology of antipsychotics to individualized treatment for severe mental illness : a roadmap). 兼子直監訳 (2008)
  • Author(s): 兼子直
  • Total Pages: 77
  • Publisher: アルタ出版(株)・東京
• [Book] てんかんの生物学的背景-病態解明から個別化治療の開発ヘ-. てんかん-臨床的側面-. 松下正昭, 加藤敏, 神庭重信編. 精神医学対話. 1002-14 (2008)
  • Author(s): 兼子直
  • Total Pages: 1064
  • Publisher: (株)弘文堂・東京
• [Remarks]
  • URL: http://www.enieene.ora/mutation/
• [Patent(Industrial Property Rights)] てんかんモデル非ヒト哺乳動物 (2009)
  • Inventor(s): 兼子直, 廣瀬伸一
  • Industrial Property Rights Holder: 兼子直, 廣瀬伸一
  • Industrial Property Number: PCT/JP2009/52230
  • Filing Date: 2009-02-10
  • Overseas