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X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.

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Title: X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.
Authors: Sun JH; Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Nanjing University, Nanjing, China., Chen J; Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China., Ayala Valenzuela FE; Hospital Angeles Tijuana, Tijuana, México., Brown C; Illumina Inc., San Diego, California, United States of America., Masser-Frye D; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, California, United States of America., Jones M; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, California, United States of America., Romero LP; Facultad de Medicina y Psicología, Universidad Autónoma de Baja California, Tijuana, Mexico., Rinaldi B; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Li WL; Breakthrough Genomics Inc., Irvine, California, United States of America., Li QQ; Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Nanjing University, Nanjing, China., Wu D; Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Nanjing University, Nanjing, China., Gerard B; Laboratoires de diagnostic génétique, Institut Medical d'Alsace, Hôpitaux Universitaire de Strasbourg, Strasbourg, France., Thorpe E; Illumina Inc., San Diego, California, United States of America., Bayat A; Department for Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark., Shi YS; Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Nanjing University, Nanjing, China.; Institute for Brain Sciences, Nanjing University, Nanjing, China.; Chemistry and Biomedicine Innovation Center, Nanjing University, Nanjing, China.
Source: PLoS genetics [PLoS Genet] 2021 Jun 23; Vol. 17 (6), pp. e1009608. Date of Electronic Publication: 2021 Jun 23 (Print Publication: 2021).
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.
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  Data: <searchLink fieldCode="AU" term="%22Sun+JH%22">Sun JH</searchLink>; Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Nanjing University, Nanjing, China.<br /><searchLink fieldCode="AU" term="%22Chen+J%22">Chen J</searchLink>; Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.<br /><searchLink fieldCode="AU" term="%22Ayala+Valenzuela+FE%22">Ayala Valenzuela FE</searchLink>; Hospital Angeles Tijuana, Tijuana, México.<br /><searchLink fieldCode="AU" term="%22Brown+C%22">Brown C</searchLink>; Illumina Inc., San Diego, California, United States of America.<br /><searchLink fieldCode="AU" term="%22Masser-Frye+D%22">Masser-Frye D</searchLink>; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, California, United States of America.<br /><searchLink fieldCode="AU" term="%22Jones+M%22">Jones M</searchLink>; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, California, United States of America.<br /><searchLink fieldCode="AU" term="%22Romero+LP%22">Romero LP</searchLink>; Facultad de Medicina y Psicología, Universidad Autónoma de Baja California, Tijuana, Mexico.<br /><searchLink fieldCode="AU" term="%22Rinaldi+B%22">Rinaldi B</searchLink>; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Li+WL%22">Li WL</searchLink>; Breakthrough Genomics Inc., Irvine, California, United States of America.<br /><searchLink fieldCode="AU" term="%22Li+QQ%22">Li QQ</searchLink>; Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Nanjing University, Nanjing, China.<br /><searchLink fieldCode="AU" term="%22Wu+D%22">Wu D</searchLink>; Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Nanjing University, Nanjing, China.<br /><searchLink fieldCode="AU" term="%22Gerard+B%22">Gerard B</searchLink>; Laboratoires de diagnostic génétique, Institut Medical d'Alsace, Hôpitaux Universitaire de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Thorpe+E%22">Thorpe E</searchLink>; Illumina Inc., San Diego, California, United States of America.<br /><searchLink fieldCode="AU" term="%22Bayat+A%22">Bayat A</searchLink>; Department for Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Shi+YS%22">Shi YS</searchLink>; Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Nanjing University, Nanjing, China.; Institute for Brain Sciences, Nanjing University, Nanjing, China.; Chemistry and Biomedicine Innovation Center, Nanjing University, Nanjing, China.
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  Data: <searchLink fieldCode="JN" term="%22101239074%22">PLoS genetics</searchLink> [PLoS Genet] 2021 Jun 23; Vol. 17 (6), pp. e1009608. <i>Date of Electronic Publication: </i>2021 Jun 23 (<i>Print Publication: </i>2021).
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