Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
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Published:2019-06-07
Issue:1
Volume:10
Page:
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ISSN:2041-1723
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Container-title:Nature Communications
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language:en
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Short-container-title:Nat Commun
Author:
Takata Atsushi, Nakashima MitsukoORCID, Saitsu HirotomoORCID, Mizuguchi Takeshi, Mitsuhashi Satomi, Takahashi Yukitoshi, Okamoto Nobuhiko, Osaka HitoshiORCID, 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 KouheiORCID, 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 ShinORCID, Shiihara Takashi, Kato MitsuhiroORCID, Matsumoto NaomichiORCID
Funder
Japan Agency for Medical Research and Development Ministry of Health, Labour and Welfare Takeda Science Foundation Yokohama Foundation for Advanced Medical Science Hayashi Memorial Foundation for Female Natural Scientists MEXT | Japan Society for the Promotion of Science
Publisher
Springer Science and Business Media LLC
Subject
General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry
Reference70 articles.
1. Berg, A. T. et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 51, 676–685 (2010). 2. Scheffer, I. E. et al. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia 58, 512–521 (2017). 3. McTague, A., Howell, K. B., Cross, J. H., Kurian, M. A. & Scheffer, I. E. The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurol. 15, 304–316 (2016). 4. Helbig, K. L. et al. Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet. Med. 18, 898–905 (2016). 5. Mercimek-Mahmutoglu, S. et al. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. Epilepsia 56, 707–716 (2015).
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