Compromised function in the Nav1.2 Dravet syndrome mutation R1312T

by Christoph Lossin, Xiuyu Shi, Michael A. Rogawski, Shinichi Hirose
Published 2012-09-01

Recurrent autonomic and sensory neuropathy in a patient with anti-ganglionic acetylcholine receptor antibodies

by Eri Watanabe, Takako Fujita, Masayuki Shimono, Haruki Koike, Sawa Yasumoto, Shinichi Hirose
Published 2018-09-01

Establishment of human induced pluripotent stem cells derived from skin cells of a patient with Dravet syndrome

by Yuichi Kimura, Yasuyoshi Tanaka, Naoto Shirasu, Shin'ichiro Yasunaga, Norimichi Higurashi, Shinichi Hirose
Published 2020-08-01

Development of Highly Functional Long-Term Culture Method of Liver Slice Embedded in Agarose Gel for Bioartificial Liver

by Hideki Nonaka, Hirohiko Ise, Nobuhiro Sugihara, Shinichi Hirose, Naoki Negishi, Yoshiyuki Kondo, Toshihiro Akaike
Published 2003-07-01

Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations.

by Yukiko Ihara, Yuko Tomonoh, Masanobu Deshimaru, Bo Zhang, Taku Uchida, Atsushi Ishii, Shinichi Hirose
Published 2016-01-01

Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) caused by a VDR mutation: A novel mechanism of dominant inheritance

by Tsuyoshi Isojima, Michiyasu Ishizawa, Kazuko Yoshimura, Mayuko Tamura, Shinichi Hirose, Makoto Makishima, Sachiko Kitanaka
Published 2015-06-01

Properties of a Novel GABAA Receptor γ2 Subunit Mutation Associated With Seizures

by Keisuke Migita, Junko Yamada, Yoshikazu Nikaido, XiuYu Shi, Sunao Kaneko, Shinichi Hirose, Shinya Ueno
Published 2013-01-01

Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene

by Yasuyoshi Tanaka, Norimichi Higurashi, Naoto Shirasu, Shin'ichiro Yasunaga, Kevin Mello Moreira, Hideyuki Okano, Shinichi Hirose
Published 2018-08-01

Novel HCN2 mutation contributes to febrile seizures by shifting the channel's kinetics in a temperature-dependent manner.

by Yuki Nakamura, Xiuyu Shi, Tomohiro Numata, Yasuo Mori, Ryuji Inoue, Christoph Lossin, Tallie Z Baram, Shinichi Hirose
Published 2013-01-01

Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene

by Yasuyoshi Tanaka, Takefumi Sone, Norimichi Higurashi, Tetsushi Sakuma, Sadafumi Suzuki, Mitsuru Ishikawa, Takashi Yamamoto, Jun Mitsui, Hitomi Tsuji, Hideyuki Okano, Shinichi Hirose
Published 2018-04-01

Inhibitory synaptic transmission is impaired at higher extracellular Ca2+ concentrations in Scn1a +/− mouse model of Dravet syndrome

by Kouya Uchino, Hiroyuki Kawano, Yasuyoshi Tanaka, Yuna Adaniya, Ai Asahara, Masanobu Deshimaru, Kaori Kubota, Takuya Watanabe, Shutaro Katsurabayashi, Katsunori Iwasaki, Shinichi Hirose
Published 2021-05-01

Vagus nerve stimulation for generalized epilepsy with febrile seizures plus (GEFS+) accompanying seizures with impaired consciousness

by Ryosuke Hanaya, Fajar H Niantiarno, Yumi Kashida, Hiroshi Hosoyama, Shinsuke Maruyama, Sei Sugata, Toshiaki Otsubo, Kazumi Tanaka, Atsushi Ishii, Shinichi Hirose, Kazunori Arita
Published 2017-01-01

Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.

by Michael F Hammer, Atsushi Ishii, Laurel Johnstone, Alexander Tchourbanov, Branden Lau, Ryan Sprissler, Brian Hallmark, Miao Zhang, Jin Zhou, Joseph Watkins, Shinichi Hirose
Published 2017-01-01

Physical, cognitive, and social status of patients with urea cycle disorders in Japan

by Jun Kido, Shirou Matsumoto, Tetsuya Ito, Shinichi Hirose, Kaori Fukui, Kanako Kojima-Ishii, Yuichi Mushimoto, Shinobu Yoshida, Mika Ishige, Norio Sakai, Kimitoshi Nakamura
Published 2021-06-01

Newborn screening for Fabry disease in the western region of Japan

by Takaaki Sawada, Jun Kido, Shinichiro Yoshida, Keishin Sugawara, Ken Momosaki, Takahito Inoue, Go Tajima, Hirotake Sawada, Shirou Mastumoto, Fumio Endo, Shinichi Hirose, Kimitoshi Nakamura
Published 2020-03-01

Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.

by Atsushi Ishii, Yoshiaki Saito, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Hidee Arai, Sumimasa Yamashita, Sadami Kimura, Hirokazu Oguni, Shinichi Morishita, Shoji Tsuji, Masayuki Sasaki, Shinichi Hirose
Published 2013-01-01

DCTN1 Binds to TDP-43 and Regulates TDP-43 Aggregation

by Manami Deshimaru, Mariko Kinoshita-Kawada, Kaori Kubota, Takuya Watanabe, Yasuyoshi Tanaka, Saito Hirano, Fumiyoshi Ishidate, Masaki Hiramoto, Mitsuru Ishikawa, Yoshinari Uehara, Hideyuki Okano, Shinichi Hirose, Shinsuke Fujioka, Katsunori Iwasaki, Junichi Yuasa-Kawada, Takayasu Mishima, Yoshio Tsuboi
Published 2021-04-01

The kick-in system: a novel rapid knock-in strategy.

by Yuko Tomonoh, Masanobu Deshimaru, Kimi Araki, Yasuhiro Miyazaki, Tomoko Arasaki, Yasuyoshi Tanaka, Haruna Kitamura, Fumiaki Mori, Koichi Wakabayashi, Sayaka Yamashita, Ryo Saito, Masayuki Itoh, Taku Uchida, Junko Yamada, Keisuke Migita, Shinya Ueno, Hiroki Kitaura, Akiyoshi Kakita, Christoph Lossin, Yukio Takano, Shinichi Hirose
Published 2014-01-01

Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.

by Toshiyuki Yamamoto, Keiko Shimojima, Noriko Sangu, Yuta Komoike, Atsushi Ishii, Shinpei Abe, Shintaro Yamashita, Katsumi Imai, Tetsuo Kubota, Tatsuya Fukasawa, Tohru Okanishi, Hideo Enoki, Takuya Tanabe, Akira Saito, Toru Furukawa, Toshiaki Shimizu, Carol J Milligan, Steven Petrou, Sarah E Heron, Leanne M Dibbens, Shinichi Hirose, Akihisa Okumura
Published 2015-01-01

A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders

by Toshimitsu Suzuki, Toshifumi Suzuki, Matthieu Raveau, Noriko Miyake, Genki Sudo, Yoshinori Tsurusaki, Takaki Watanabe, Yuki Sugaya, Tetsuya Tatsukawa, Emi Mazaki, Atsushi Shimohata, Itaru Kushima, Branko Aleksic, Tomoko Shiino, Tomoko Toyota, Yoshimi Iwayama, Kentaro Nakaoka, Iori Ohmori, Aya Sasaki, Ken Watanabe, Shinichi Hirose, Sunao Kaneko, Yushi Inoue, Takeo Yoshikawa, Norio Ozaki, Masanobu Kano, Takeyoshi Shimoji, Naomichi Matsumoto, Kazuhiro Yamakawa
Published 2020-07-01