Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Many causative genes are known for epileptic or developmental and epileptic encephalopathies (EE/DEE) yet a genetic diagnosis cannot be made for many patients. Here, the authors analyse whole exome sequencing data from a Japanese case−control cohort to identify common, rare and ultra-rare coding var...

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Autores principales:	Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/16a9920cc8234e80bb6236676c9ac817
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spelling	oai:doaj.org-article:16a9920cc8234e80bb6236676c9ac8172021-12-02T17:02:15ZComprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy10.1038/s41467-019-10482-92041-1723https://doaj.org/article/16a9920cc8234e80bb6236676c9ac8172019-06-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-10482-9https://doaj.org/toc/2041-1723Many causative genes are known for epileptic or developmental and epileptic encephalopathies (EE/DEE) yet a genetic diagnosis cannot be made for many patients. Here, the authors analyse whole exome sequencing data from a Japanese case−control cohort to identify common, rare and ultra-rare coding variants associated with EE/DEE.Atsushi TakataMitsuko NakashimaHirotomo SaitsuTakeshi MizuguchiSatomi MitsuhashiYukitoshi TakahashiNobuhiko OkamotoHitoshi OsakaKazuyuki NakamuraJun TohyamaKazuhiro HaginoyaSaoko TakeshitaIchiro KukiTohru OkanishiTomohide GotoMasayuki SasakiYasunari SakaiNoriko MiyakeSatoko MiyatakeNaomi TsuchidaKazuhiro IwamaGaku MinaseFutoshi SekiguchiAtsushi FujitaEri ImagawaEriko KoshimizuYuri UchiyamaKohei HamanakaChihiro OhbaToshiyuki ItaiHiromi AoiKen SaidaTomohiro SakaguchiKouhei DenRina TakahashiHiroko IkedaTokito YamaguchiKazuki TsukamotoShinsaku YoshitomiTaikan OboshiKatsumi ImaiTomokazu KimizuYu KobayashiMasaya KubotaHirofumi KashiiShimpei BabaMizue IaiRyutaro KiraMunetsugu HaraMasayasu OhtaYohane MiyataRie MiyataJun-ichi TakanashiJun MatsuiKenji YokochiMasayuki ShimonoMasano AmamotoRumiko TakayamaShinichi HirabayashiKaori AibaHiroshi MatsumotoShin NabatameTakashi ShiiharaMitsuhiro KatoNaomichi MatsumotoNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Atsushi Takata Mitsuko Nakashima Hirotomo Saitsu Takeshi Mizuguchi Satomi Mitsuhashi Yukitoshi Takahashi Nobuhiko Okamoto Hitoshi Osaka Kazuyuki Nakamura Jun Tohyama Kazuhiro Haginoya Saoko Takeshita Ichiro Kuki Tohru Okanishi Tomohide Goto Masayuki Sasaki Yasunari Sakai Noriko Miyake Satoko Miyatake Naomi Tsuchida Kazuhiro Iwama Gaku Minase Futoshi Sekiguchi Atsushi Fujita Eri Imagawa Eriko Koshimizu Yuri Uchiyama Kohei Hamanaka Chihiro Ohba Toshiyuki Itai Hiromi Aoi Ken Saida Tomohiro Sakaguchi Kouhei Den Rina Takahashi Hiroko Ikeda Tokito Yamaguchi Kazuki Tsukamoto Shinsaku Yoshitomi Taikan Oboshi Katsumi Imai Tomokazu Kimizu Yu Kobayashi Masaya Kubota Hirofumi Kashii Shimpei Baba Mizue Iai Ryutaro Kira Munetsugu Hara Masayasu Ohta Yohane Miyata Rie Miyata Jun-ichi Takanashi Jun Matsui Kenji Yokochi Masayuki Shimono Masano Amamoto Rumiko Takayama Shinichi Hirabayashi Kaori Aiba Hiroshi Matsumoto Shin Nabatame Takashi Shiihara Mitsuhiro Kato Naomichi Matsumoto Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
description	Many causative genes are known for epileptic or developmental and epileptic encephalopathies (EE/DEE) yet a genetic diagnosis cannot be made for many patients. Here, the authors analyse whole exome sequencing data from a Japanese case−control cohort to identify common, rare and ultra-rare coding variants associated with EE/DEE.
format	article
author	Atsushi Takata Mitsuko Nakashima Hirotomo Saitsu Takeshi Mizuguchi Satomi Mitsuhashi Yukitoshi Takahashi Nobuhiko Okamoto Hitoshi Osaka Kazuyuki Nakamura Jun Tohyama Kazuhiro Haginoya Saoko Takeshita Ichiro Kuki Tohru Okanishi Tomohide Goto Masayuki Sasaki Yasunari Sakai Noriko Miyake Satoko Miyatake Naomi Tsuchida Kazuhiro Iwama Gaku Minase Futoshi Sekiguchi Atsushi Fujita Eri Imagawa Eriko Koshimizu Yuri Uchiyama Kohei Hamanaka Chihiro Ohba Toshiyuki Itai Hiromi Aoi Ken Saida Tomohiro Sakaguchi Kouhei Den Rina Takahashi Hiroko Ikeda Tokito Yamaguchi Kazuki Tsukamoto Shinsaku Yoshitomi Taikan Oboshi Katsumi Imai Tomokazu Kimizu Yu Kobayashi Masaya Kubota Hirofumi Kashii Shimpei Baba Mizue Iai Ryutaro Kira Munetsugu Hara Masayasu Ohta Yohane Miyata Rie Miyata Jun-ichi Takanashi Jun Matsui Kenji Yokochi Masayuki Shimono Masano Amamoto Rumiko Takayama Shinichi Hirabayashi Kaori Aiba Hiroshi Matsumoto Shin Nabatame Takashi Shiihara Mitsuhiro Kato Naomichi Matsumoto
author_facet	Atsushi Takata Mitsuko Nakashima Hirotomo Saitsu Takeshi Mizuguchi Satomi Mitsuhashi Yukitoshi Takahashi Nobuhiko Okamoto Hitoshi Osaka Kazuyuki Nakamura Jun Tohyama Kazuhiro Haginoya Saoko Takeshita Ichiro Kuki Tohru Okanishi Tomohide Goto Masayuki Sasaki Yasunari Sakai Noriko Miyake Satoko Miyatake Naomi Tsuchida Kazuhiro Iwama Gaku Minase Futoshi Sekiguchi Atsushi Fujita Eri Imagawa Eriko Koshimizu Yuri Uchiyama Kohei Hamanaka Chihiro Ohba Toshiyuki Itai Hiromi Aoi Ken Saida Tomohiro Sakaguchi Kouhei Den Rina Takahashi Hiroko Ikeda Tokito Yamaguchi Kazuki Tsukamoto Shinsaku Yoshitomi Taikan Oboshi Katsumi Imai Tomokazu Kimizu Yu Kobayashi Masaya Kubota Hirofumi Kashii Shimpei Baba Mizue Iai Ryutaro Kira Munetsugu Hara Masayasu Ohta Yohane Miyata Rie Miyata Jun-ichi Takanashi Jun Matsui Kenji Yokochi Masayuki Shimono Masano Amamoto Rumiko Takayama Shinichi Hirabayashi Kaori Aiba Hiroshi Matsumoto Shin Nabatame Takashi Shiihara Mitsuhiro Kato Naomichi Matsumoto
author_sort	Atsushi Takata
title	Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
title_short	Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
title_full	Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
title_fullStr	Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
title_full_unstemmed	Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
title_sort	comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/16a9920cc8234e80bb6236676c9ac817
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Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

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