Pesquisa | Biblioteca Virtual em Saúde

1.

Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.

Bailey, Julia N; de Nijs, Laurence; Bai, Dongsheng; Suzuki, Toshimitsu; Miyamoto, Hiroyuki; Tanaka, Miyabi; Patterson, Christopher; Lin, Yu-Chen; Medina, Marco T; Alonso, María E; Serratosa, José M; Durón, Reyna M; Nguyen, Viet H; Wight, Jenny E; Martínez-Juárez, Iris E; Ochoa, Adriana; Jara-Prado, Aurelio; Guilhoto, Laura; Molina, Yolly; Yacubian, Elsa M; López-Ruiz, Minerva; Inoue, Yushi; Kaneko, Sunao; Hirose, Shinichi; Osawa, Makiko; Oguni, Hirokazu; Fujimoto, Shinji; Grisar, Thierry M; Stern, John M; Yamakawa, Kazuhiro; Lakaye, Bernard; Delgado-Escueta, Antonio V.

N Engl J Med; 378(11): 1018-1028, 2018 03 15.

Artigo em Inglês | MEDLINE | ID: mdl-29539279

2.

Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel.

Hirabayashi, Kyoko; Uehara, Daniela Tiaki; Abe, Hidetoshi; Ishii, Atsushi; Moriyama, Keiji; Hirose, Shinichi; Inazawa, Johji.

J Hum Genet; 64(11): 1097-1106, 2019 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-31471553

3.

Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.

Momosaki, Ken; Kido, Jun; Yoshida, Shinichiro; Sugawara, Keishin; Miyamoto, Tatsuki; Inoue, Takahito; Okumiya, Toshika; Matsumoto, Shirou; Endo, Fumio; Hirose, Shinichi; Nakamura, Kimitoshi.

J Hum Genet; 64(8): 741-755, 2019 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-31076647

4.

Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy.

Goto, Ayako; Ishii, Atsushi; Shibata, Mami; Ihara, Yukiko; Cooper, Edward C; Hirose, Shinichi.

Epilepsia; 60(9): 1870-1880, 2019 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-31418850

5.

Somatic mosaic deletions involving SCN1A cause Dravet syndrome.

Nakayama, Tojo; Ishii, Atsushi; Yoshida, Takeshi; Nasu, Hirosato; Shimojima, Keiko; Yamamoto, Toshiyuki; Kure, Shigeo; Hirose, Shinichi.

Am J Med Genet A; 176(3): 657-662, 2018 03.

Artigo em Inglês | MEDLINE | ID: mdl-29341473

6.

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.

Ishii, Atsushi; Kang, Jing-Qiong; Schornak, Cara C; Hernandez, Ciria C; Shen, Wangzhen; Watkins, Joseph C; Macdonald, Robert L; Hirose, Shinichi.

J Med Genet; 54(3): 202-211, 2017 03.

Artigo em Inglês | MEDLINE | ID: mdl-27789573

7.

Abnormal Î³-aminobutyric acid neurotransmission in a Kcnq2 model of early onset epilepsy.

Uchida, Taku; Lossin, Christoph; Ihara, Yukiko; Deshimaru, Masanobu; Yanagawa, Yuchio; Koyama, Susumu; Hirose, Shinichi.

Epilepsia; 58(8): 1430-1439, 2017 08.

Artigo em Inglês | MEDLINE | ID: mdl-28575529

8.

Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome.

Ishii, Atsushi; Watkins, Joseph C; Chen, Debbie; Hirose, Shinichi; Hammer, Michael F.

Epilepsia; 58(2): 282-290, 2017 02.

Artigo em Inglês | MEDLINE | ID: mdl-28012175

9.

SCN8A encephalopathy: Research progress and prospects.

Meisler, Miriam H; Helman, Guy; Hammer, Michael F; Fureman, Brandy E; Gaillard, William D; Goldin, Alan L; Hirose, Shinichi; Ishii, Atsushi; Kroner, Barbara L; Lossin, Christoph; Mefford, Heather C; Parent, Jack M; Patel, Manoj; Schreiber, John; Stewart, Randall; Whittemore, Vicky; Wilcox, Karen; Wagnon, Jacy L; Pearl, Phillip L; Vanderver, Adeline; Scheffer, Ingrid E.

Epilepsia; 57(7): 1027-35, 2016 07.

Artigo em Inglês | MEDLINE | ID: mdl-27270488

10.

[Characteristic asymmetric abnormal eye movement and dystonic posture as the first symptoms of alternating hemiplegia of childhood].

Motoki, Takahiro; Sasaki, Masayuki; Ishii, Atsushi; Hirose, Shinichi.

No To Hattatsu; 48(2): 133-6, 2016 Mar.

Artigo em Japonês | MEDLINE | ID: mdl-27149744

11.

A female patient with a hot spot mutation of PRRT2 gene suffering from several types of epileptic seizures in infancy.

Matsushita, Hiroko Baber; Okano, Sozo; Ishii, Atsushi; Hirose, Shinichi.

No To Hattatsu; 48(5): 351-4, 2016 09.

Artigo em Japonês | MEDLINE | ID: mdl-30010281

12.

Trans-Golgi protein p230/golgin-245 is involved in phagophore formation.

Sohda, Miwa; Misumi, Yoshio; Ogata, Shigenori; Sakisaka, Shotaro; Hirose, Shinichi; Ikehara, Yukio; Oda, Kimimitsu.

Biochem Biophys Res Commun; 456(1): 275-81, 2015 Jan 02.

Artigo em Inglês | MEDLINE | ID: mdl-25436429

13.

Phenotypes of children with 20q13.3 microdeletion affecting KCNQ2 and CHRNA4.

Okumura, Akihisa; Shimojima, Keiko; Kurahashi, Hirokazu; Yoshitomi, Shinsaku; lmai, Katsumi; Imamura, Mari; Seki, Yuko; Toshiaki Shimizu, Toshiaki; Hirose, Shinichi; Yamamoto, Toshiyuki.

Epileptic Disord; 17(2): 165-71, 2015 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-26030193

14.

[A patient with an early diagnosis of PCDH19-related epilepsy].

Hoshina, Megumi; Higurashi, Norimichi; Abe, Yusaku; Mishima, Hiroshi; Hosoya, Mituaki; Nakayama, Tojo; Hirose, Shinichi.

No To Hattatsu; 47(4): 305-9, 2015 Jul.

Artigo em Japonês | MEDLINE | ID: mdl-26353454

15.

A novel SCN1A mutation in a cytoplasmic loop in intractable juvenile myoclonic epilepsy without febrile seizures.

Jingami, Naoto; Matsumoto, Riki; Ito, Hirotaka; Ishii, Atsushi; Ihara, Yukiko; Hirose, Shinichi; Ikeda, Akio; Takahashi, Ryosuke.

Epileptic Disord; 16(2): 227-31, 2014 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-24842605

16.

Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia.

Inoue, Shinkai; Ishii, Atsushi; Shirotani, Goro; Tsutsumi, Makoto; Ohta, Eiji; Nakamura, Masatoshi; Mori, Toshiko; Inoue, Takahito; Nishimura, Gen; Ogawa, Atsushi; Hirose, Shinichi.

Pediatr Int; 56(4): e26-9, 2014 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-25252066

17.

[Genetic aberrations and epilepsy].

Ishii, Atsushi; Hirose, Shinichi.

Nihon Rinsho; 72(5): 796-802, 2014 May.

Artigo em Japonês | MEDLINE | ID: mdl-24912278

18.

Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study.

Inoue, Takahito; Hattori, Kiyoko; Ihara, Kenji; Ishii, Atsushi; Nakamura, Kimitoshi; Hirose, Shinichi.

J Hum Genet; 58(8): 548-52, 2013 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-23677059

19.

SCN1A testing for epilepsy: application in clinical practice.

Hirose, Shinichi; Scheffer, Ingrid E; Marini, Carla; De Jonghe, Peter; Andermann, Eva; Goldman, Alica M; Kauffman, Marcelo; Tan, Nigel C K; Lowenstein, Daniel H; Sisodiya, Sanjay M; Ottman, Ruth; Berkovic, Samuel F.

Epilepsia; 54(5): 946-52, 2013 May.

Artigo em Inglês | MEDLINE | ID: mdl-23586701

20.

Properties of a novel GABAA receptor Î³2 subunit mutation associated with seizures.

Migita, Keisuke; Yamada, Junko; Nikaido, Yoshikazu; Shi, XiuYu; Kaneko, Sunao; Hirose, Shinichi; Ueno, Shinya.

J Pharmacol Sci; 121(1): 84-7, 2013.

Artigo em Inglês | MEDLINE | ID: mdl-23257655

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