Mutant GABAA receptor subunits in genetic (idiopathic) epilepsy von Hirose, Shinichi

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Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy von Shibata, Mami, Ishii, Atsushi, Goto, Ayako, Hirose, Shinichi

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Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study von Inoue, Takahito, Hattori, Kiyoko, Ihara, Kenji, Ishii, Atsushi, Nakamura, Kimitoshi, Hirose, Shinichi

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Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients von Momosaki, Ken, Kido, Jun, Yoshida, Shinichiro, Sugawara, Keishin, Miyamoto, Tatsuki, Inoue, Takahito, Okumiya, Toshika, Matsumoto, Shirou, Endo, Fumio, Hirose, Shinichi, Nakamura, Kimitoshi

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Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy von Goto, Ayako, Ishii, Atsushi, Shibata, Mami, Ihara, Yukiko, Cooper, Edward C., Hirose, Shinichi

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Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes von Hoshino, Ai, Saitoh, Makiko, Oka, Akira, Okumura, Akihisa, Kubota, Masaya, Saito, Yoshiaki, Takanashi, Jun-ichi, Hirose, Shinichi, Yamagata, Takanori, Yamanouchi, Hideo, Mizuguchi, Masashi

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A new paradigm of channelopathy in epilepsy syndromes: Intracellular trafficking abnormality of channel molecules von Hirose, Shinichi

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Inhibitory synaptic transmission is impaired at higher extracellular Ca2+ concentrations in Scn1a+/− mouse model of Dravet syndrome von Uchino, Kouya, Kawano, Hiroyuki, Tanaka, Yasuyoshi, Adaniya, Yuna, Asahara, Ai, Deshimaru, Masanobu, Kubota, Kaori, Watanabe, Takuya, Katsurabayashi, Shutaro, Iwasaki, Katsunori, Hirose, Shinichi

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Astrocyte Ca2+ signaling is facilitated in Scn1a+/− mouse model of Dravet syndrome von Uchino, Kouya, Tanaka, Yasuyoshi, Ikezawa, Wakana, Deshimaru, Masanobu, Kubota, Kaori, Watanabe, Takuya, Katsurabayashi, Shutaro, Iwasaki, Katsunori, Hirose, Shinichi

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Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation von Takeda, Kanako, Miyamoto, Yusaku, Yamamoto, Hisako, Ishii, Atsushi, Hirose, Shinichi, Yamamoto, Hitoshi

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CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate von Suzuki, Toshimitsu, Tatsukawa, Tetsuya, Sudo, Genki, Delandre, Caroline, Pai, Yun Jin, Miyamoto, Hiroyuki, Raveau, Matthieu, Shimohata, Atsushi, Ohmori, Iori, Hamano, Shin-ichiro, Haginoya, Kazuhiro, Uematsu, Mitsugu, Takahashi, Yukitoshi, Morimoto, Masafumi, Fujimoto, Shinji, Osaka, Hitoshi, Oguni, Hirokazu, Osawa, Makiko, Ishii, Atsushi, Hirose, Shinichi, Kaneko, Sunao, Inoue, Yushi, Moore, Adrian Walton, Yamakawa, Kazuhiro

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The effectiveness of intravenous benzodiazepine for status epilepticus in Dravet syndrome von Kikuchi, Kenjiro, Hamano, Shin-ichiro, Matsuura, Ryuki, Nonoyama, Hazuki, Daida, Atsuro, Hirata, Yuko, Koichihara, Reiko, Hirano, Daishi, Ishii, Atsushi, Hirose, Shinichi

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Application of induced pluripotent stem cells in epilepsy von Hirose, Shinichi, Tanaka, Yasuyoshi, Shibata, Mami, Kimura, Yuichi, Ishikawa, Mitsuru, Higurashi, Norimichi, Yamamoto, Toshiyuki, Ichise, Eisuke, Chiyonobu, Tomohiro, Ishii, Atsushi

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Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons von Ichise, Eisuke, Chiyonobu, Tomohiro, Ishikawa, Mitsuru, Tanaka, Yasuyoshi, Shibata, Mami, Tozawa, Takenori, Taura, Yoshihiro, Yamashita, Satoshi, Yoshida, Michiko, Morimoto, Masafumi, Higurashi, Norimichi, Yamamoto, Toshiyuki, Okano, Hideyuki, Hirose, Shinichi

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SCN8A encephalopathy: Research progress and prospects von 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.

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Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome von Shi, Xiuyu, Yasumoto, Sawa, Nakagawa, Eiji, Fukasawa, Tatsuya, Uchiya, Satoshi, Hirose, Shinichi

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Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients von Ishii, Atsushi, Saito, Yoshiaki, Mitsui, Jun, Ishiura, Hiroyuki, Yoshimura, Jun, Arai, Hidee, Yamashita, Sumimasa, Kimura, Sadami, Oguni, Hirokazu, Morishita, Shinichi, Tsuji, Shoji, Sasaki, Masayuki, Hirose, Shinichi

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DCTN1 Binds to TDP-43 and Regulates TDP-43 Aggregation von Deshimaru, Manami, Kinoshita-Kawada, Mariko, Kubota, Kaori, Watanabe, Takuya, Tanaka, Yasuyoshi, Hirano, Saito, Ishidate, Fumiyoshi, Hiramoto, Masaki, Ishikawa, Mitsuru, Uehara, Yoshinari, Okano, Hideyuki, Hirose, Shinichi, Fujioka, Shinsuke, Iwasaki, Katsunori, Yuasa-Kawada, Junichi, Mishima, Takayasu, Tsuboi, Yoshio

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Current status of newborn screening for Pompe disease in Japan von Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Momosaki, Ken, Yoshida, Shinichiro, Kojima-Ishii, Kanako, Inoue, Takahito, Matsumoto, Shirou, Endo, Fumio, Ohga, Shouichi, Hirose, Shinichi, Nakamura, Kimitoshi

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miR-124 dosage regulates prefrontal cortex function by dopaminergic modulation von Kozuka, Takashi, Omori, Yoshihiro, Watanabe, Satoshi, Tarusawa, Etsuko, Yamamoto, Haruka, Chaya, Taro, Furuhashi, Mayu, Morita, Makiko, Sato, Tetsuya, Hirose, Shinichi, Ohkawa, Yasuyuki, Yoshimura, Yumiko, Hikida, Takatoshi, Furukawa, Takahisa

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