Nature Communications (Jun 2019)
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
- 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
Affiliations
- Atsushi Takata
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Mitsuko Nakashima
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Hirotomo Saitsu
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Takeshi Mizuguchi
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Satomi Mitsuhashi
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Yukitoshi Takahashi
- National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders
- Nobuhiko Okamoto
- Department of Medical Genetics, Osaka Women’s and Children’s Hospital
- Hitoshi Osaka
- Department of Pediatrics, Jichi Medical University
- Kazuyuki Nakamura
- Department of Pediatrics, Yamagata University Faculty of Medicine
- Jun Tohyama
- Department of Child Neurology, NHO Nishiniigata Chuo Hospital
- Kazuhiro Haginoya
- Department of Pediatric Neurology, Miyagi Children’s Hospital
- Saoko Takeshita
- Department of Pediatrics, Yokohama City University Medical Center
- Ichiro Kuki
- Department of Pediatric Neurology, Osaka City General Hospital
- Tohru Okanishi
- Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital
- Tomohide Goto
- Division of Neurology, Kanagawa Children’s Medical Center
- Masayuki Sasaki
- Department of Child Neurology, National Center of Neurology and Psychiatry
- Yasunari Sakai
- Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University
- Noriko Miyake
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Satoko Miyatake
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Naomi Tsuchida
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Kazuhiro Iwama
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Gaku Minase
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Futoshi Sekiguchi
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Atsushi Fujita
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Eri Imagawa
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Eriko Koshimizu
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Yuri Uchiyama
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Kohei Hamanaka
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Chihiro Ohba
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Toshiyuki Itai
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Hiromi Aoi
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Ken Saida
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Tomohiro Sakaguchi
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Kouhei Den
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Rina Takahashi
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Hiroko Ikeda
- National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders
- Tokito Yamaguchi
- National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders
- Kazuki Tsukamoto
- National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders
- Shinsaku Yoshitomi
- National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders
- Taikan Oboshi
- National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders
- Katsumi Imai
- National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders
- Tomokazu Kimizu
- Department of Pediatric Neurology, Osaka Women’s and Children’s Hospital
- Yu Kobayashi
- Department of Child Neurology, NHO Nishiniigata Chuo Hospital
- Masaya Kubota
- Division of Neurology, National Center for Child Health and Development
- Hirofumi Kashii
- Division of Neurology, National Center for Child Health and Development
- Shimpei Baba
- Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital
- Mizue Iai
- Division of Neurology, Kanagawa Children’s Medical Center
- Ryutaro Kira
- Department of Pediatric Neurology, Fukuoka Children’s Hospital
- Munetsugu Hara
- Department of Pediatrics and Child Health, Kurume University School of Medicine
- Masayasu Ohta
- Department of Neuropediatrics, Aiseikai Memorial Ibaraki Welfare Medical Center
- Yohane Miyata
- Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital
- Rie Miyata
- Department of Pediatrics, Tokyo-kita Medical Center
- Jun-ichi Takanashi
- Department of Pediatrics, Tokyo Women’s Medical University Yachiyo Medical Center
- Jun Matsui
- Department of Pediatrics, Shiga University of Medical Science, Setatsukinowacho
- Kenji Yokochi
- Department of Pediatric Neurology, Seirei-Mikatahara General Hospital
- Masayuki Shimono
- Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health
- Masano Amamoto
- Kutakyushu Municipal Yahata Hospital Pediatric Emergency Center
- Rumiko Takayama
- Hokkaido Medical Center for Child Health and Rehabilitation
- Shinichi Hirabayashi
- Division of Neurology, Nagano Children’s Hospital
- Kaori Aiba
- Department of Pediatrics, Toyohashi Municipal Hospital
- Hiroshi Matsumoto
- Department of Pediatrics, National Defense Medical College
- Shin Nabatame
- Department of Pediatrics, Graduate School of Medicine, Osaka University
- Takashi Shiihara
- Department of Neurology, Gunma Children’s Medical Center
- Mitsuhiro Kato
- Department of Pediatrics, Yamagata University Faculty of Medicine
- Naomichi Matsumoto
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- DOI
- https://doi.org/10.1038/s41467-019-10482-9
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 14
Abstract
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.
