Challgenges to refractory epilepsies with gene editing.

• Project/Area Number: 25670481
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• 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): TAKANO Yukio 福岡大学, 薬学部, 教授 (50113246) ; KATSURABAYASHI Shyutaro 福岡大学, 薬学部, 准教授 (50435145) ; SAITO Ryo 福岡大学, 薬学部, 講師 (80122696)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Project Status: Completed (Fiscal Year 2015)
• Budget Amount: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000); Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000); Fiscal Year 2014: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2013: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
• Keywords: てんかん / ドラベ症候群 / 遺伝子 / 遺伝子修復 / ＴＡＬＥＮ

Outline of Final Research Achievements

To investigate the molecular pathomechanisms of Dravet syndrome, we use induced pluripotent cells (iPSCs) from a Dravet syndrome patient. These cells demonstrate the dysfunction of their inhibitory neurons. We use TALEN gene editing techniques to repair abnormalities in the SCN1A gene of the patient’s iPSCs and, in doing, so, see the potential of repaired cells for Dravet syndrome treatment, the iPSC abnormality is corrected with no effect on other parts of the genome. In addition, the SCN1A mutation is introduced iPSCs from a healthy individual. These repaired and mutated iPSCs allow the pathomechanisms of Dravet syndrome to be studied from an isogenic perspective, and with the gene editing system should provide new therapeutic measures for epilepsies such as Dravet syndrome.

Research Products

• [Journal Article] Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations (2016)
  • 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
  • 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
  • Peer Reviewed / Int'l Joint Research
• [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] 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] 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
  • 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
  • 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
  • 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
  • Peer Reviewed / Acknowledgement Compliant
• [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
  • 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] 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, K. Y.
  • Journal Title: Cardiovasc Pathol. Volume: 248(1) Pages: 33-40
  • 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: Brain Dev. Volume: 27 Pages: 1-5
  • Peer Reviewed / 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] 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] 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] 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] 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] 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] 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 research. Volume: vol.106 Pages: 191-199
  • 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: vol.531 Pages: 467-471
  • 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: vol.4(3) Pages: 152-152
  • 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 myoclonic 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: vol.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 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] Oral mexiletine for lidocaine-responsive neonatal epilepsy. (2013)
  • Author(s): Nakazawa M, Okumura A, Niijima S, Yamashita S, Shimono K, Hirose S, ShimizuT.
  • Journal Title: Brain & development. Volume: vol.35(7) Pages: 667-669
  • 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
• [Presentation] iPS細胞と再診遺伝子操作技術で拓く未来の医療-福岡大学てんかん研究から- (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
  • Invited
• [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
  • 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
  • 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
  • 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
  • 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
  • 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
  • Int'l Joint Research
• [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
  • Int'l Joint Research
• [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学術大会
  • Place of Presentation: 福岡
  • Year and Date: 2014-11-19 – 2014-11-21
• [Presentation] A recurrent KCNT1 mutation in two sporadic cases with malignat 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,Yamamoto T.
  • Organizer: The 16th Annual Meeting of The Infantile Seizure Society (ISES 2014)
  • Place of Presentation: Ｔｕｒｋｅｙ
  • Year and Date: 2014-06-22 – 2014-06-27
  • Invited
• [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 – 2014-06-25
• [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 M, Hirose S.
  • Organizer: The 2nd Asian Congress for Lysosomal Storage Disease Screening
  • Place of Presentation: 福岡
  • Year and Date: 2014-06-05 – 2014-06-06
• [Presentation] A Genetic Analysis of Benign Neonatal Epilepsy in Japan (2013)
  • Author(s): IharaY,IshiiA, KanekoS,HiroseS.
  • Organizer: International Symposium on Neontal 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: kecてんかん学会 Korean Epilepsy Congress 2013
  • Place of Presentation: 韓国 ソウル
• [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: Kecてんかん学会 Korean Epilepsy Congress 2013
  • Place of Presentation: 韓国 ソウル
• [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: kecてんかん学会 Korean Epilepsy Congress 2013
  • Place of Presentation: 韓国 ソウル
• [Presentation] Molecular basis of benign familial infantile epilepsy and related syndromes (2013)
  • Author(s): Hirose S
  • Organizer: モントリオールてんかん学会 ３０Th international Epilepsy Congress 2013
  • 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 ｛Chairpersoｎ , SK}｛Japan}
  • Organizer: モントリオールてんかん学会３０Th international Epilepsy Congress 2013
  • Place of Presentation: モントリオール 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｛Japan}
  • Organizer: モントリオールてんかん学会３０Th international Epilepsy Congress 2013
  • Place of Presentation: モントリオール 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
• [Book] てんかん外来 神経内科外来シリ-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
• [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
• [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突発性全般てんかん (2015)
  • Author(s): 石井敦士、廣瀨伸一
  • Total Pages: 3
  • Publisher: 医学書院
• [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
• [Book] 今日の治療指針 私はこうして治療している熱性けいれん febrile seizures(FS) (2015)
  • Author(s): 廣瀨伸一
  • Total Pages: 2
  • Publisher: 医学書院
• [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
• [Book] Genetics of Epilepsy (2014)
  • Author(s): Hirose S.
  • Total Pages: 31
  • Publisher: Progress in brain research.
• [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: 希少難治てんかん 診療マニュアル