ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice von Aoto, Kazushi, Kato, Mitsuhiro, Akita, Tenpei, Nakashima, Mitsuko, Mutoh, Hiroki, Akasaka, Noriyuki, Tohyama, Jun, Nomura, Yoshiko, Hoshino, Kyoko, Ago, Yasuhiko, Tanaka, Ryuta, Epstein, Orna, Ben-Haim, Revital, Heyman, Eli, Miyazaki, Takehiro, Belal, Hazrat, Takabayashi, Shuji, Ohba, Chihiro, Takata, Atsushi, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Fukuda, Atsuo, Matsumoto, Naomichi, Saitsu, Hirotomo

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Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb von Nakashima, Mitsuko, Saitsu, Hirotomo, Takei, Nobuyuki, Tohyama, Jun, Kato, Mitsuhiro, Kitaura, Hiroki, Shiina, Masaaki, Shirozu, Hiroshi, Masuda, Hiroshi, Watanabe, Keisuke, Ohba, Chihiro, Tsurusaki, Yoshinori, Miyake, Noriko, Zheng, Yingjun, Sato, Tatsuhiro, Takebayashi, Hirohide, Ogata, Kazuhiro, Kameyama, Shigeki, Kakita, Akiyoshi, Matsumoto, Naomichi

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Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay von Saitsu, Hirotomo, Watanabe, Miho, Akita, Tenpei, Ohba, Chihiro, Sugai, Kenji, Ong, Winnie Peitee, Shiraishi, Hideaki, Yuasa, Shota, Matsumoto, Hiroshi, Beng, Khoo Teik, Saitoh, Shinji, Miyatake, Satoko, Nakashima, Mitsuko, Miyake, Noriko, Kato, Mitsuhiro, Fukuda, Atsuo, Matsumoto, Naomichi

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De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing von Saitsu, Hirotomo, Akita, Tenpei, Tohyama, Jun, Goldberg-Stern, Hadassa, Kobayashi, Yu, Cohen, Roni, Kato, Mitsuhiro, Ohba, Chihiro, Miyatake, Satoko, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Fukuda, Atsuo, Matsumoto, Naomichi

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De novo KCNT1 mutations in early‐onset epileptic encephalopathy von Ohba, Chihiro, Kato, Mitsuhiro, Takahashi, Nobuya, Osaka, Hitoshi, Shiihara, Takashi, Tohyama, Jun, Nabatame, Shin, Azuma, Junji, Fujii, Yuji, Hara, Munetsugu, Tsurusawa, Reimi, Inoue, Takahito, Ogata, Reina, Watanabe, Yoriko, Togashi, Noriko, Kodera, Hirofumi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Tanaka, Fumiaki, Saitsu, Hirotomo, Matsumoto, Naomichi

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Early onset epileptic encephalopathy caused by de novo SCN8A mutations von Ohba, Chihiro, Kato, Mitsuhiro, Takahashi, Satoru, Lerman‐Sagie, Tally, Lev, Dorit, Terashima, Hiroshi, Kubota, Masaya, Kawawaki, Hisashi, Matsufuji, Mayumi, Kojima, Yasuko, Tateno, Akihiko, Goldberg‐Stern, Hadassa, Straussberg, Rachel, Marom, Dafna, Leshinsky‐Silver, Esther, Nakashima, Mitsuko, Nishiyama, Kiyomi, Tsurusaki, Yoshinori, Miyake, Noriko, Tanaka, Fumiaki, Matsumoto, Naomichi, Saitsu, Hirotomo

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Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy von Takata, Atsushi, Nakashima, Mitsuko, Saitsu, Hirotomo, Mizuguchi, Takeshi, Mitsuhashi, Satomi, Takahashi, Yukitoshi, Okamoto, Nobuhiko, Osaka, Hitoshi, Nakamura, Kazuyuki, Tohyama, Jun, Haginoya, Kazuhiro, Takeshita, Saoko, Kuki, Ichiro, Okanishi, Tohru, Goto, Tomohide, Sasaki, Masayuki, Sakai, Yasunari, Miyake, Noriko, Miyatake, Satoko, Tsuchida, Naomi, Iwama, Kazuhiro, Minase, Gaku, Sekiguchi, Futoshi, Fujita, Atsushi, Imagawa, Eri, Koshimizu, Eriko, Uchiyama, Yuri, Hamanaka, Kohei, Ohba, Chihiro, Itai, Toshiyuki, Aoi, Hiromi, Saida, Ken, Sakaguchi, Tomohiro, Den, Kouhei, Takahashi, Rina, Ikeda, Hiroko, Yamaguchi, Tokito, Tsukamoto, Kazuki, Yoshitomi, Shinsaku, Oboshi, Taikan, Imai, Katsumi, Kimizu, Tomokazu, Kobayashi, Yu, Kubota, Masaya, Kashii, Hirofumi, Baba, Shimpei, Iai, Mizue, Kira, Ryutaro, Hara, Munetsugu, Ohta, Masayasu, Miyata, Yohane, Miyata, Rie, Takanashi, Jun-ichi, Matsui, Jun, Yokochi, Kenji, Shimono, Masayuki, Amamoto, Masano, Takayama, Rumiko, Hirabayashi, Shinichi, Aiba, Kaori, Matsumoto, Hiroshi, Nabatame, Shin, Shiihara, Takashi, Kato, Mitsuhiro, Matsumoto, Naomichi

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A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome von Inui, Takehiko, Anzai, Mai, Takezawa, Yusuke, Endo, Wakaba, Kakisaka, Yosuke, Kikuchi, Atsuo, Onuma, Akira, Kure, Shigeo, Nishino, Ichizo, Ohba, Chihiro, Saitsu, Hirotomo, Matsumoto, Naomichi, Haginoya, Kazuhiro

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De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance von Ohba, Chihiro, Haginoya, Kazuhiro, Osaka, Hitoshi, Kubota, Kazuo, Ishiyama, Akihiko, Hiraide, Takuya, Komaki, Hirofumi, Sasaki, Masayuki, Miyatake, Satoko, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Tanaka, Fumiaki, Saitsu, Hirotomo, Matsumoto, Naomichi

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Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene von Sasaki, Masayuki, Ohba, Chihiro, Iai, Mizue, Hirabayashi, Shinichi, Osaka, Hitoshi, Hiraide, Takuya, Saitsu, Hirotomo, Matsumoto, Naomichi

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De novo GABRA1 mutations in Ohtahara and West syndromes von Kodera, Hirofumi, Ohba, Chihiro, Kato, Mitsuhiro, Maeda, Toshiyuki, Araki, Kaoru, Tajima, Daisuke, Matsuo, Muneaki, Hino‐Fukuyo, Naomi, Kohashi, Kosuke, Ishiyama, Akihiko, Takeshita, Saoko, Motoi, Hirotaka, Kitamura, Taro, Kikuchi, Atsuo, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Sasaki, Masayuki, Kure, Shigeo, Haginoya, Kazuhiro, Saitsu, Hirotomo, Matsumoto, Naomichi

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De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain von Ohba, Chihiro, Nabatame, Shin, Iijima, Yoshitaka, Nishiyama, Kiyomi, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Tanaka, Fumiaki, Ozono, Keiichi, Saitsu, Hirotomo, Matsumoto, Naomichi

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Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach von Miyatake, Satoko, Koshimizu, Eriko, Fujita, Atsushi, Fukai, Ryoko, Imagawa, Eri, Ohba, Chihiro, Kuki, Ichiro, Nukui, Megumi, Araki, Atsushi, Makita, Yoshio, Ogata, Tsutomu, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi

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Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy von Miyake, Noriko, Fukai, Ryoko, Ohba, Chihiro, Chihara, Takahiro, Miura, Masayuki, Shimizu, Hiroshi, Kakita, Akiyoshi, Imagawa, Eri, Shiina, Masaaki, Ogata, Kazuhiro, Okuno-Yuguchi, Jiu, Fueki, Noboru, Ogiso, Yoshifumi, Suzumura, Hiroshi, Watabe, Yoshiyuki, Imataka, George, Leong, Huey Yin, Fattal-Valevski, Aviva, Kramer, Uri, Miyatake, Satoko, Kato, Mitsuhiro, Okamoto, Nobuhiko, Sato, Yoshinori, Mitsuhashi, Satomi, Nishino, Ichizo, Kaneko, Naofumi, Nishiyama, Akira, Tamura, Tomohiko, Mizuguchi, Takeshi, Nakashima, Mitsuko, Tanaka, Fumiaki, Saitsu, Hirotomo, Matsumoto, Naomichi

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A female case of aromatic l -amino acid decarboxylase deficiency responsive to MAO-B inhibition von Kojima, Karin, Anzai, Rie, Ohba, Chihiro, Goto, Tomohide, Miyauchi, Akihiko, Thöny, Beat, Saitsu, Hirotomo, Matsumoto, Naomichi, Osaka, Hitoshi, Yamagata, Takanori

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Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood von Ohba, Chihiro, Osaka, Hitoshi, Iai, Mizue, Yamashita, Sumimasa, Suzuki, Yume, Aida, Noriko, Shimozawa, Nobuyuki, Takamura, Ayumi, Doi, Hiroshi, Tomita-Katsumoto, Atsuko, Nishiyama, Kiyomi, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Eto, Yoshikatsu, Tanaka, Fumiaki, Matsumoto, Naomichi, Saitsu, Hirotomo

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De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient von Hara, Munetsugu, Ohba, Chihiro, Yamashita, Yushiro, Saitsu, Hirotomo, Matsumoto, Naomichi, Matsuishi, Toyojiro

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Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy von Mutoh, Hiroki, Kato, Mitsuhiro, Akita, Tenpei, Shibata, Takuma, Wakamoto, Hiroyuki, Ikeda, Hiroko, Kitaura, Hiroki, Aoto, Kazushi, Nakashima, Mitsuko, Wang, Tianying, Ohba, Chihiro, Miyatake, Satoko, Miyake, Noriko, Kakita, Akiyoshi, Miyake, Kensuke, Fukuda, Atsuo, Matsumoto, Naomichi, Saitsu, Hirotomo

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Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations von Kohashi, Kosuke, Ishiyama, Akihiko, Yuasa, Shota, Tanaka, Tomomi, Miya, Kazushi, Adachi, Yuichi, Sato, Noriko, Saitsu, Hirotomo, Ohba, Chihiro, Matsumoto, Naomichi, Murakami, Yoshiko, Kinoshita, Taroh, Sugai, Kenji, Sasaki, Masayuki

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Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity von Miyatake, Satoko, Touho, Hajime, Miyake, Noriko, Ohba, Chihiro, Doi, Hiroshi, Saitsu, Hirotomo, Taguri, Masataka, Morita, Satoshi, Matsumoto, Naomichi

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