Development of innovative treatments for epilepsy based upon its molecular pathomechanisms using patient iPS cells and novel genetically engineered animals.

• Project/Area Number: 24249060
• 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) ; Araki Kimi 熊本大学, 生命資源研究・支援センター 疾患モデル, 教授 (90211705) ; Saito Ryo 福岡大学, 薬学部, 講師 (80122696) ; Takano Yukio 福岡大学, 薬学部, 教授 (50113246) ; 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, 准教授 (50435145)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Project Status: Completed (Fiscal Year 2015)
• Budget Amount: ¥33,540,000 (Direct Cost: ¥25,800,000、Indirect Cost: ¥7,740,000); Fiscal Year 2014: ¥9,490,000 (Direct Cost: ¥7,300,000、Indirect Cost: ¥2,190,000); Fiscal Year 2013: ¥7,670,000 (Direct Cost: ¥5,900,000、Indirect Cost: ¥1,770,000); Fiscal Year 2012: ¥16,380,000 (Direct Cost: ¥12,600,000、Indirect Cost: ¥3,780,000)
• Keywords: てんかん / iPS / 遺伝子 / けいれん / ドラベ症候群 / 遺伝子改変動物 / 薬剤スクリーニング

Outline of Final Research Achievements

This project was to elucidate the pathomechanisms of epilepsy and establish novel treatments based upon them. A number of genetic abnormalities were found and the responsible gene for alternative hemiplegia in childhood was also identified using next generation sequencing. Induced pluripotent stem cells (iPSc) were established from a patient with Dravet syndrome caused by an SCN1A mutation and accordingly the pathomechanisms of Dravet syndrome were uncovered. Furthermore, the mutation of the iPSc was generically repaired and the same mutation was introduced to the iPS cells established in reverse from a healthy individual. Mice harboring an Scn1a deletion were genetically engineered as were rats bearing Scn1a and Pcdh19 mutations. Now, screenings to find seeds for anti-epileptic drugs are underway using the established iPS cells and the genetically engineered animal models in this project.

Research Products

• [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
  • Peer Reviewed / Open Access / 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
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] JNK is critical for the development of Candida albicans-induced vascular lesions in a mouse model of Kawasaki disease. (2015)
  • Author(s): Yoshikane Y, Koga M, Imanaka-Yoshida K, Cho T, Yamamoto Y, Yoshida T, Hashimoto J, Hirose S, Yoshimura K.
  • Journal Title: Cardiovasc Pathol. Volume: 24(1) Issue: 1 Pages: 33-40
  • DOI: 10.1016/j.carpath.2014.08.005
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Trans-Golgi protein p230/golgin-245 is involved in phagophore formation (2015)
  • Author(s): Sohda M, Misumi Y, Ogata S, Sakisaka S, Hirose S, Ikehara Y and Oda K
  • Journal Title: Biochem. Biophys. Res Commun. Volume: 456 Issue: 1 Pages: 275-281
  • DOI: 10.1016/j.bbrc.2014.11.071
  • Peer Reviewed / 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
  • 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
  • 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
  • Peer Reviewed
• [Journal Article] The kick-in system: a novel rapid knock-in strategy. (2014)
  • Author(s): Tomonoh, Y., Deshimaru, M., Araki, K., Miyazaki, Y., Arasaki, T., Tanaka, Y., Kitamura, H., Mori, F., Wakabayashi, K., Yamashita, S., Saito, R., Itoh, M., Uchida, T., Yamada, J., Migita, K., Ueno, S., Kitaura, H., Kakita, A., Lossin, C., Takano, Y., Hirose, S.
  • Journal Title: PLoS One. Volume: 9 Issue: 2 Pages: 88549-88549
  • DOI: 10.1371/journal.pone.0088549
  • Peer Reviewed / Open Access
• [Journal Article] Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures. (2014)
  • Author(s): Naoko H. Tomioka, Hiroki Yasuda, Hiroyuki Miyamoto, Minoru Hatayama, Naoko Morimura, Yoshifumi Matsumoto, Toshimitsu Suzuki, Maya Odagawa, Yuri S. Odaka, Yoshimi Iwayama, Ji Won Um, Jaewon Ko, Yushi Inoue, Sunao Kaneko, Shinichi Hirose, Kazuyuki Yamada, Takeo Yoshikawa, Kazuhiro Yamakawa, Jun Aruga
  • Journal Title: Nature Communications Volume: 5 Issue: 1 Pages: 45011-16
  • DOI: 10.1038/ncomms5501
  • Peer Reviewed / Open Access
• [Journal Article] Genotype-Phenotype Correlations in Alternating Hemiplegia of Childhood (2014)
  • Author(s): Sasaki M, Ishii A, Saito Y, (中略）, Tsuji S and Hirose S.
  • Journal Title: Neurology Volume: 82 Issue: 6 Pages: 482-490
  • DOI: 10.1212/wnl.0000000000000102
  • Peer Reviewed
• [Journal Article] Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism. (2014)
  • Author(s): Sasaki M, Ishii A, Saito Y, Hirose S.
  • Journal Title: Movement disorders Volume: 29 Issue: 1 Pages: 153-154
  • DOI: 10.1002/mds.25659
  • Peer Reviewed
• [Journal Article] Exacerbation of benign familial neonatal epilepsy induced by massive doses of phenobarbital and midazolam. (2014)
  • Author(s): Maeda T, Shimizu M, Sekiguchi K, Ishii A, Ihara Y, Hirose S, Izumi T.
  • Journal Title: Pediatr Neurol Volume: 51(2) Issue: 2 Pages: 259-61
  • DOI: 10.1016/j.pediatrneurol.2014.04.004
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Obesity attenuates D2 autoreceptor-mediated inhibition of putative ventral tegmental area dopaminergic neurons. (2014)
  • Author(s): Koyama S, Mori M, Kanamaru S, Sazawa T, Miyazaki A, Terai H, Hirose S.
  • Journal Title: Physiol Rep Volume: 2(5) Issue: 5 Pages: 1-10
  • DOI: 10.14814/phy2.12004
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] A novel SCN1A mutation in a cytoplasmic loop in intractable juvenile myoclonic epilepsy without febrile seizures. (2014)
  • Author(s): Jingami N, Matsumoto R, Ito H, Ishii A, Ihara Y, Hirose S, Ikeda A, Takahashi R.
  • Journal Title: Epileptic Disord Volume: 16(2) Issue: 2 Pages: 227-31
  • DOI: 10.1684/epd.2014.0657
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Association of nonsense mutation in GABRG2 with abnormal trafficking of GABA_A receptors in severe epilepsy (2014)
  • Author(s): Ishii, A., Kanaumi, T., Sohda, M., Misumi, Y., Zhang, B., Kakinuma, N., Haga, Y., Watanabe, K., Takeda, S., Okada, M., Ueno, S., Kaneko, S., Takashima, S., Hirose, S.
  • Journal Title: Epilepsy Res Volume: 108 Issue: 3 Pages: 420
  • DOI: 10.1016/j.eplepsyres.2013.12.005
  • Peer Reviewed
• [Journal Article] Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsy (2014)
  • Author(s): Inoue T, Ihara Y, Tomonoh Y, Nakamura N, Ninomiya S, Fujita T, Ideguchi H, Yasumoto S, Zhang B, Hirose S
  • Journal Title: Brain Dev Volume: 36 Issue: 7 Pages: 613-619
  • DOI: 10.1016/j.braindev.2013.08.009
  • Peer Reviewed
• [Journal Article] Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia. (2014)
  • Author(s): Inoue S, Ishii A, Shirotani G, Tsutsumi M, Ohta E, Nakamura M, Mori T, Inoue T, Nishimura G, Ogawa A, Hirose S.
  • Journal Title: Pediatr Int. Volume: 56(4) Issue: 4
  • DOI: 10.1111/ped.12383
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Distinct neurological disorders with ATP1A3 mutations. (2014)
  • Author(s): Heinzen, E.L.*, Arzimanoglou, A., Brashear, A., Clapcote, S.J., Gurrieri, F., Goldstein, D.B., Johannesson, S.H., Mikati, M.A., Neville, B., Nicole, S., Ozelius, L.J., Poulsen, H., Schyns, T., Sweadner, K.J., van den Maagdenberg, A., Vilsen, B., the ATP1A3 Working Group (included Ikeda, K.).
  • Journal Title: Lancet Neurol. Volume: 13 Issue: 5 Pages: 503-514
  • DOI: 10.1016/s1474-4422(14)70011-0
  • Peer Reviewed / Open Access
• [Journal Article] SCN1A testing for epilepsy: application in clinical practice. (2013)
  • Author(s): Hirose S, Scheffer IE, Marini C, De Jonghe P, Andermann E, Goldman AM, Kauffman M, Tan NC, Lowenstein DH, Sisodiya SM, Ottman R, Berkovic SF, Genetics Commission of the International League Against E.
  • Journal Title: Epilepsia Volume: 54 Issue: 5 Pages: 946-952
  • DOI: 10.1111/epi.12168
  • Peer Reviewed
• [Journal Article] A case of severe progressive early-onset epileptic encephalopathy: unique GABAergic interneuron distribution and imagings (2013)
  • Author(s): Inoue T, Kawawakia H, Kuki I, Nabatame S, Tomonoh Y, Sukigara S, Horino A, Nukui M, Okazaki S, Tomiwa K, Kimura-Ohba S, Inoue T, Hirose S, Shiomi M, Itoh M.
  • Journal Title: J Neurol Sci Volume: 327 Issue: 1-2 Pages: 65-72
  • DOI: 10.1016/j.jns.2013.01.038
  • Peer Reviewed
• [Journal Article] Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. (2013)
  • Author(s): Ishii A, Saito Y, Mitsui J, Ishiura H, Yoshimura J, Arai H, Yamashita S, Kimura S, Oguni H, Morishita S, Tsuji S, Sasaki M, Hirose S.
  • Journal Title: PLoS One Volume: 8 Issue: 2 Pages: e56120-e56120
  • DOI: 10.1371/journal.pone.0056120
  • Peer Reviewed
• [Journal Article] Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis. (2013)
  • Author(s): Ishii A, et al
  • Journal Title: Brain and Development Volume: 35 Issue: 6 Pages: 524-30
  • DOI: 10.1016/j.braindev.2012.09.006
  • Peer Reviewed
• [Journal Article] PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy. (2013)
  • Author(s): Higurashi N, Nakamura M, Sugai M, Ohfu M, Sakauchi M, Sugawara Y, Nakamura K, Kato M, Usui D, Mogami Y, Fujiwara Y, Ito T, Ikeda H, Imai K, Takahashi Y, Nukui M, Inoue T, Okazaki S, Kirino T, Tomonoh Y, Inoue T, Takano K, Shimakawa S, Hirose S.
  • Journal Title: Epilepsy Res Volume: 106 Issue: 1-2 Pages: 191-199
  • DOI: 10.1016/j.eplepsyres.2013.04.005
  • Peer Reviewed
• [Journal Article] A human Dravet syndrome model from patient induced pluripotent stem cells. (2013)
  • Author(s): Higurashi N, Uchida T, Lossin C, Misumi Y, Okada Y, Akamatsu W, Imaizumi Y, Zhang B, Nabeshima K, Mori MX, Katsurabayashi S, Shirasaka Y, Okano H, Hirose S.
  • Journal Title: Mol Brain Volume: 6 Issue: 1 Pages: 19-19
  • DOI: 10.1186/1756-6606-6-19
  • Peer Reviewed
• [Journal Article] A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. (2013)
  • Author(s): Ishii A, Shioda M, Okumura A, Kidokoro H, Sakauchi M, Shimada S, Shimizu T, Osawa M, Hirose S, Yamamoto T.
  • Journal Title: Gene Volume: 531 Issue: 2 Pages: 467-71
  • DOI: 10.1016/j.gene.2013.08.096
  • Peer Reviewed
• [Journal Article] Current Trends in Dravet syndrome Research. (2013)
  • Author(s): Higurashi N, Uchida T, Hirose S, Okano H.
  • Journal Title: J Neurol Neurophysiol. Volume: 4 Issue: 03 Pages: 152-152
  • DOI: 10.4172/2155-9562.1000152
  • Peer Reviewed
• [Journal Article] A novel prophylactic effect of furosemide treatment on autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). (2013)
  • Author(s): Yamada J, Zhu G, Okada M, Hirose S,
  • Journal Title: Epilepsy Res. Volume: 107 Issue: 1-2 Pages: 127-137
  • DOI: 10.1016/j.eplepsyres.2013.08.018
  • Peer Reviewed
• [Journal Article] ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus (2013)
  • Author(s): Shinohara M, Saitoh M, Nishizawa D, Ikeda K, Hirose S, Takanashi J, Takita J, Kikuchi K, et al
  • Journal Title: Neurology Volume: 80 Issue: 17 Pages: 1571-1576
  • DOI: 10.1212/wnl.0b013e31828f18d8
  • Peer Reviewed
• [Journal Article] Detection of SCN1A mutations in patients with severe myclonic epilepsy in infancy by custom resequence array. (2013)
  • Author(s): Sugawara T, Yoshida S, Onodera N, Wada K, Hirose S, Kaneko S.
  • Journal Title: Journal of Epileptology. Volume: 21 Pages: 5-13
  • Peer Reviewed
• [Journal Article] Novel HCN2 mutation contributes to febrile seizures by shifting the channel's kinetics in a temperature-dependent manner (2013)
  • Author(s): Yuki Nakamura, Xiuyu Shi, Tomohiro Numata, Yasuo Mori, Ryuji Inoue, Christoph Lossin, Tallie Z. Baram, Shinichi Hirose
  • Journal Title: PLoS One Volume: 8(12) Issue: 12 Pages: e80376-e80376
  • DOI: 10.1371/journal.pone.0080376
  • Peer Reviewed
• [Journal Article] Properties of a novel GABAA receptor γ2 subunit mutation associated with seizures. (2013)
  • Author(s): Migita K, Yamada J, Nikaido Y, Shi X, Kaneko S, Hirose S, Ueno S.
  • Journal Title: J Pharmacol Sci Volume: 121 Pages: 84-87
  • Peer Reviewed
• [Journal Article] Oral mexiletine for lidocaine-responsive neonatal epilepsy. (2013)
  • Author(s): Nakazawa M, Okumura A, Niijima S, Yamashita S, Shimono K, Hirose S, Shimizu T.
  • Journal Title: Brain Dev. Volume: 35 Issue: 7 Pages: 667-669
  • DOI: 10.1016/j.braindev.2012.10.011
  • Peer Reviewed
• [Journal Article] The effect of SCN1A mutations on patient-derived GABAergic neurons: what are the implications for future Dravet syndrome therapeutics? (2013)
  • Author(s): Higurashi N, Okano H, Hirose S.
  • Journal Title: Future Neurol Volume: 8 Issue: 5 Pages: 487-489
  • DOI: 10.2217/fnl.13.34
  • Peer Reviewed
• [Journal Article] Properties of a Novel GABA_A Receptor γ₂ Subunit Mutation Associated With Seizures (2013)
  • Author(s): Migita K, Yamada J, Nikaido Y, Shi X, Kaneko S, Hirose S, Ueno S.
  • Journal Title: Journal of Pharmacological Sciences Volume: 121 Issue: 1 Pages: 84-87
  • DOI: 10.1254/jphs.12222SC
  • NAID: 10031147590
  • ISSN: 1347-8613, 1347-8648
  • Peer Reviewed
• [Journal Article] Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. (2012)
  • Author(s): Wang JW, Shi XY, Kurahashi H, Hwang SK, Ishii A, Higurashi N, Kaneko S, Hirose S,Epilepsy Genetic Study Group J.
  • Journal Title: Epilepsy Res. Volume: 102(3) Issue: 3 Pages: 195-200
  • DOI: 10.1016/j.eplepsyres.2012.06.006
  • Peer Reviewed
• [Journal Article] Clinical spectrum of SCN2A mutations. (2012)
  • Author(s): Shi X, Yasumoto S, Kurahashi H, Nakagawa E, Fukasawa T, Uchiya S, Hirose S.
  • Journal Title: Brain Dev. Volume: 34(7) Pages: 541-5
  • 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
• [Presentation] てんかんとiPS細胞 (2014)
  • Author(s): 廣瀨伸一
  • Organizer: 第44回日本臨床神経生理学会
  • Place of Presentation: 福岡
  • Year and Date: 2014-11-19 – 2014-11-21
• [Presentation] A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy (2014)
  • Author(s): Okumura A, Ishii A, Shioda M, Kidokoro H, Sakauchi, M, Shimada S, Shimizu T, Osawa M, Hirose S, Yamamaoto T.
  • Organizer: The 16th annual meeting of the infantile seizure society
  • Place of Presentation: TURKEY
  • Year and Date: 2014-06-22 – 2014-06-27
• [Presentation] A neonatal case of malignant migrating partial seizures in infancy (2014)
  • Author(s): Sato T, Watanabe Y, Watanabe K, Yamashita M, Hashimoto K, Dateki S, Shirakawa T, Nakashima Y, Ihara Y, Ishii A, Hirose S, Moriuchi H
  • Organizer: The 16th annual meeting of the infantile seizure society
  • Place of Presentation: TURKEY
  • Year and Date: 2014-06-22 – 2014-06-27
• [Presentation] THE pathomechanisms of Dravet syndome:Lessons From patient-Derived Induced Pluripotent steｍ Cells(iPSCｓ） (2014)
  • Author(s): Hirose S
  • Organizer: The 16th annual meeting of the infantile seizure society
  • Place of Presentation: TURKEY
  • Year and Date: 2014-06-22 – 2014-06-27
  • Invited
• [Presentation] 最新技術でてんかんへ挑む (2014)
  • Author(s): 廣瀨伸一
  • Organizer: 第217回日本小児科学会宮城地方会
  • Place of Presentation: 宮城
  • Year and Date: 2014-06-08
• [Presentation] Newborn screening for Fabry disease:Prevalence and genotypes from a pilot study in Japan (2014)
  • Author(s): Inoue T, Hattori K, Ihara K, Ishii A, Nakamura K, Hirose S.
  • Organizer: The 2nd Asian Congress for Lysosomal Storage
  • Place of Presentation: 福岡
  • Year and Date: 2014-06-06
• [Presentation] A Geneic Analysis of Benign Neonatal Epilepsy in Japan (2013)
  • Author(s): Ihara Y, Ishii A, Kaneko S, Hirose S
  • Organizer: International Symposium on Neonatal Seizures and Related Disorders(ISNS)The 15th Annual Meeting of Infantile Seizure Society(ISS)
  • Place of Presentation: Tokyo, Japan
• [Presentation] Frequency of Mutations of KCNQ2 and KCNQ3 in Benign Neonatal Epilepsy in Japan (2013)
  • Author(s): Hirose S, Ihara Y, Ishii A.
  • Organizer: Korean Epilepsy Congress 2013
  • Place of Presentation: Seoul, Korea
• [Presentation] KCNQ2 Mutation Enhances Firing Activity of Gabaergic Interneurons in the Hippocampus of Neonatal Mice (2013)
  • Author(s): Uchida T, Deshimaru M, Koyama S, Yanagawa Y, Hirose S.
  • Organizer: Korean Epilepsy Congress 2013
  • Place of Presentation: Seoul, Korea
• [Presentation] Electrophysiogical Analysis of Mutant HCN Channels Found in Febrile Seizure Patients (2013)
  • Author(s): Nakamura Y, Shi X, Numata T, Mori Y, Inoue R, Hirose S.
  • Organizer: Korean Epilepsy Congress 2013
  • Place of Presentation: Seoul, Korea
• [Presentation] Molecular basis of benign familial infantile epilepsy and related syndromes (2013)
  • Author(s): Hirose S
  • Organizer: ３０Th international Epilepsy Congress
  • Place of Presentation: Montreal, Canada
• [Presentation] KCNQ2 and KCNQ3 abnormalities in benign neonatal epilepsy (BNE): a genetic analysis of BNE in Japan (2013)
  • Author(s): Ihara Y, Ishii A, Kaneko S, Hirose S, The Epilepsy Genetic Study Group Japan
  • Organizer: ３０Th international Epilepsy Congress
  • Place of Presentation: Montreal, Canada
• [Presentation] Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japan (2013)
  • Author(s): Ishii A, Saito Y, Mitsui J, Ishiura H, Yoshimura J, Arai H,Yamashita S, Kimura S, Oguni H, Morishita S, Tsuji S, Sasaki M, Hirose S.
  • Organizer: ３０Th international Epilepsy Congress
  • Place of Presentation: Montreal, Canada
• [Presentation] Novel HCN2 mutation found in febrile seizure patients affects temperature sensitivity (2013)
  • Author(s): Nakamura Y, Shi X, Numata T, Mori Y, Inoue R, Hirose S.
  • Organizer: The 11th Korea-Japan Joint Symposium of Brain Sciences,and Cardiac and Smooth Muscle Sciences
  • Place of Presentation: Hamamatsu, Japan
• [Presentation] Genetics of benign neonatal seizures (2012)
  • Author(s): Hirose S.
  • Organizer: 12th international Child Neurology Congress/11th Asian and Oceanian Congress of Child Neurology.
  • Place of Presentation: Brisbane, Australia
  • Invited
• [Presentation] Neural Hyperexcitability and the Effects of KCNQ Channel Openers on Pentylenetetrazole Induced Seizures on Model Mice in BFNS (2012)
  • Author(s): Tomonoh Y, Saito R, Araki K, Deshimaru M, Takano Y, Hirose S.
  • Organizer: 12th international Child Neurology Congress/11th Asian and Oceanian Congress of Child Neurology
  • Place of Presentation: Brisbane, Australia
• [Presentation] Identification of ATP1A3 mutations by exome sequencing as the cause of AHC in japanese patients (2012)
  • Author(s): Ishii A, Hirose S.
  • Organizer: Symposium ATP1A3 in disease from gene mutations to new treatments
  • Place of Presentation: Brussels, Belglum
  • Invited
• [Presentation] Genetic analysis of PRRT2 for benign infantile epilepsy,infantile convulsions with choleoathetosis syndrome, and benign convulsions with mild gastroenteritis
  • Author(s): Ishii A, Yasumoto S, Ihara Y, Inoue T, fujita T,Nakamura N, Ohfu M, Lee WT, Kaneko s, Hirose S.
  • Organizer: 2012Korea Epilepsy Congress
  • Place of Presentation: Incheon,Korea
• [Presentation] genetic analysis of Alternating Hemiplegia of Childhood
  • Author(s): Ishii A, Saito Y, Sasaki M, Hirose S.
  • Organizer: 10th European congress of Epileptology
  • Place of Presentation: London UK
• [Book] Genetics of Epilepsy (2014)
  • Author(s): Hirose S
  • Total Pages: 31
  • Publisher: Prog Brain Res.
• [Book] 小児科研修ノート 第2版 (2014)
  • Author(s): 廣瀨伸一
  • Total Pages: 3
  • Publisher: 診断と治療社
• [Book] 遺伝学的診断マニュアル (2013)
  • Author(s): 廣瀨伸一
  • Total Pages: 5
  • Publisher: 稀少難治てんかん診療マニュアル
• [Book] Nicotinic acetycholine receptor mutations (2012)
  • Author(s): steinlein OK, Kaneko S, Hirose S.
  • Publisher: Jasper's Basic Mecjamosms of the Epilepsies