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X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.
Sun, Jia-Hui; Chen, Jiang; Ayala Valenzuela, Fernando Eduardo; Brown, Carolyn; Masser-Frye, Diane; Jones, Marilyn; Romero, Leslie Patron; Rinaldi, Berardo; Li, Wenhui Laura; Li, Qing-Qing; Wu, Dan; Gerard, Benedicte; Thorpe, Erin; Bayat, Allan; Shi, Yun Stone.
Affiliation
  • 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.
  • Chen J; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Nanjing University, Nanjing, China.
  • Ayala Valenzuela FE; Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.
  • Brown C; Hospital Angeles Tijuana, Tijuana, México.
  • Masser-Frye D; Illumina Inc., 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; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, California, United States of America.
  • Rinaldi B; Facultad de Medicina y Psicología, Universidad Autónoma de Baja California, Tijuana, Mexico.
  • Li WL; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
  • Li QQ; Breakthrough Genomics Inc., Irvine, California, United States of America.
  • 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.
  • Gerard B; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Nanjing University, Nanjing, China.
  • Thorpe E; Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.
  • Bayat A; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Nanjing University, Nanjing, China.
  • Shi YS; Laboratoires de diagnostic génétique, Institut Medical d'Alsace, Hôpitaux Universitaire de Strasbourg, Strasbourg, France.
PLoS Genet ; 17(6): e1009608, 2021 06.
Article in En | MEDLINE | ID: mdl-34161333
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile / Egg Proteins / Receptors, AMPA / Gain of Function Mutation / Membrane Proteins / Neurons Type of study: Prognostic_studies / Risk_factors_studies Limits: Animals / Child, preschool / Female / Humans Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2021 Document type: Article Affiliation country: China Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile / Egg Proteins / Receptors, AMPA / Gain of Function Mutation / Membrane Proteins / Neurons Type of study: Prognostic_studies / Risk_factors_studies Limits: Animals / Child, preschool / Female / Humans Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2021 Document type: Article Affiliation country: China Country of publication: United States