Epilepsy protein Efhc1/myoclonin1 is expressed in cells with motile cilia but not in neurons or mitotic apparatuses in brain

by Toshimitsu Suzuki, Ikuyo Inoue, Kazuhiro Yamakawa
Published 2020-12-01

DYRK1A-haploinsufficiency in mice causes autistic-like features and febrile seizures

by Matthieu Raveau, Atsushi Shimohata, Kenji Amano, Hiroyuki Miyamoto, Kazuhiro Yamakawa
Published 2018-02-01

Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells

by Tetsuya Tatsukawa, Ikuo Ogiwara, Emi Mazaki, Atsushi Shimohata, Kazuhiro Yamakawa
Published 2018-04-01

Alterations of in vivo CA1 network activity in Dp(16)1Yey Down syndrome model mice

by Matthieu Raveau, Denis Polygalov, Roman Boehringer, Kenji Amano, Kazuhiro Yamakawa, Thomas J McHugh
Published 2018-02-01

Mouse with Nav1.1 haploinsufficiency, a model for Dravet syndrome, exhibits lowered sociability and learning impairment

by Susumu Ito, Ikuo Ogiwara, Kazuyuki Yamada, Hiroyuki Miyamoto, Takao K. Hensch, Makiko Osawa, Kazuhiro Yamakawa
Published 2013-01-01

A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy

by Baljinder Singh, Ikuo Ogiwara, Makoto Kaneda, Natsuko Tokonami, Emi Mazaki, Koichi Baba, Kazumi Matsuda, Yushi Inoue, Kazuhiro Yamakawa
Published 2006-11-01

CRISPR/dCas9-based Scn1a gene activation in inhibitory neurons ameliorates epileptic and behavioral phenotypes of Dravet syndrome model mice

by Tetsushi Yamagata, Matthieu Raveau, Kenta Kobayashi, Hiroyuki Miyamoto, Tetsuya Tatsukawa, Ikuo Ogiwara, Shigeyoshi Itohara, Takao K. Hensch, Kazuhiro Yamakawa
Published 2020-07-01

Airway Ciliary Beating Affected by the <i>Pcp4</i> Dose-Dependent [Ca²⁺]_i Increase in Down Syndrome Mice, Ts1Rhr

by Haruka Kogiso, Matthieu Raveau, Kazuhiro Yamakawa, Daichi Saito, Yukiko Ikeuchi, Tomonori Okazaki, Shinji Asano, Toshio Inui, Yoshinori Marunaka, Takashi Nakahari
Published 2020-03-01

Scn2a haploinsufficient mice display a spectrum of phenotypes affecting anxiety, sociability, memory flexibility and ampakine CX516 rescues their hyperactivity

by Tetsuya Tatsukawa, Matthieu Raveau, Ikuo Ogiwara, Satoko Hattori, Hiroyuki Miyamoto, Emi Mazaki, Shigeyoshi Itohara, Tsuyoshi Miyakawa, Mauricio Montal, Kazuhiro Yamakawa
Published 2019-03-01

Proteomic analysis of multiple primary cilia reveals a novel mode of ciliary development in mammals

by Keishi Narita, Hiroko Kozuka-Hata, Yuta Nonami, Hiroko Ao-Kondo, Toshimitsu Suzuki, Hideki Nakamura, Kazuhiro Yamakawa, Masaaki Oyama, Takafumi Inoue, Sen Takeda
Published 2012-06-01

Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome.

by David S Auerbach, Julie Jones, Brittany C Clawson, James Offord, Guy M Lenk, Ikuo Ogiwara, Kazuhiro Yamakawa, Miriam H Meisler, Jack M Parent, Lori L Isom
Published 2013-01-01

Cell-type specific roles for PTEN in establishing a functional retinal architecture.

by Robert Cantrup, Rajiv Dixit, Elena Palmesino, Stephan Bonfield, Tarek Shaker, Nobuhiko Tachibana, Dawn Zinyk, Sarah Dalesman, Kazuhiro Yamakawa, William K Stell, Rachel O Wong, Benjamin E Reese, Artur Kania, Yves Sauvé, Carol Schuurmans
Published 2012-01-01

Impaired cortico-striatal excitatory transmission triggers epilepsy

by Hiroyuki Miyamoto, Tetsuya Tatsukawa, Atsushi Shimohata, Tetsushi Yamagata, Toshimitsu Suzuki, Kenji Amano, Emi Mazaki, Matthieu Raveau, Ikuo Ogiwara, Atsuko Oba-Asaka, Takao K. Hensch, Shigeyoshi Itohara, Kenji Sakimura, Kenta Kobayashi, Kazuto Kobayashi, Kazuhiro Yamakawa
Published 2019-04-01

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

by Anaïs Begemann, Mario A. Acuña, Markus Zweier, Marie Vincent, Katharina Steindl, Ruxandra Bachmann-Gagescu, Annette Hackenberg, Lucia Abela, Barbara Plecko, Judith Kroell-Seger, Alessandra Baumer, Kazuhiro Yamakawa, Yushi Inoue, Reza Asadollahi, Heinrich Sticht, Hanns Ulrich Zeilhofer, Anita Rauch
Published 2019-02-01

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

Down syndrome cell adhesion molecule like-1 (DSCAML1) links the GABA system and seizure susceptibility

by Yoneko Hayase, Shigeru Amano, Koichi Hashizume, Takashi Tominaga, Hiroyuki Miyamoto, Yukie Kanno, Yukiko Ueno-Inoue, Takayoshi Inoue, Mayumi Yamada, Shigehiro Ogata, Shabeesh Balan, Ken Hayashi, Yoshiki Miura, Kentaro Tokudome, Yukihiro Ohno, Takuma Nishijo, Toshihiko Momiyama, Yuchio Yanagawa, Akiko Takizawa, Tomoji Mashimo, Tadao Serikawa, Akihiro Sekine, Eiji Nakagawa, Eri Takeshita, Takeo Yoshikawa, Chikako Waga, Ken Inoue, Yu-ichi Goto, Yoichi Nabeshima, Nobuo Ihara, Kazuhiro Yamakawa, Shinichiro Taya, Mikio Hoshino
Published 2020-11-01

Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights

by Itaru Kushima, Branko Aleksic, Masahiro Nakatochi, Teppei Shimamura, Takashi Okada, Yota Uno, Mako Morikawa, Kanako Ishizuka, Tomoko Shiino, Hiroki Kimura, Yuko Arioka, Akira Yoshimi, Yuto Takasaki, Yanjie Yu, Yukako Nakamura, Maeri Yamamoto, Tetsuya Iidaka, Shuji Iritani, Toshiya Inada, Nanayo Ogawa, Emiko Shishido, Youta Torii, Naoko Kawano, Yutaka Omura, Toru Yoshikawa, Tokio Uchiyama, Toshimichi Yamamoto, Masashi Ikeda, Ryota Hashimoto, Hidenaga Yamamori, Yuka Yasuda, Toshiyuki Someya, Yuichiro Watanabe, Jun Egawa, Ayako Nunokawa, Masanari Itokawa, Makoto Arai, Mitsuhiro Miyashita, Akiko Kobori, Michio Suzuki, Tsutomu Takahashi, Masahide Usami, Masaki Kodaira, Kyota Watanabe, Tsukasa Sasaki, Hitoshi Kuwabara, Mamoru Tochigi, Fumichika Nishimura, Hidenori Yamasue, Yosuke Eriguchi, Seico Benner, Masaki Kojima, Walid Yassin, Toshio Munesue, Shigeru Yokoyama, Ryo Kimura, Yasuko Funabiki, Hirotaka Kosaka, Makoto Ishitobi, Tetsuro Ohmori, Shusuke Numata, Takeo Yoshikawa, Tomoko Toyota, Kazuhiro Yamakawa, Toshimitsu Suzuki, Yushi Inoue, Kentaro Nakaoka, Yu-ichi Goto, Masumi Inagaki, Naoki Hashimoto, Ichiro Kusumi, Shuraku Son, Toshiya Murai, Tempei Ikegame, Naohiro Okada, Kiyoto Kasai, Shohko Kunimoto, Daisuke Mori, Nakao Iwata, Norio Ozaki
Published 2018-09-01