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De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
Chung, Hyung-Lok; Mao, Xiao; Wang, Hua; Park, Ye-Jin; Marcogliese, Paul C; Rosenfeld, Jill A; Burrage, Lindsay C; Liu, Pengfei; Murdock, David R; Yamamoto, Shinya; Wangler, Michael F; Chao, Hsiao-Tuan; Long, Hongyu; Feng, Li; Bacino, Carlos A; Bellen, Hugo J; Xiao, Bo.
Afiliação
  • Chung HL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA.
  • Mao X; National Health Commission Key Laboratory of Birth Defects Research, Prevention, and Treatment, Hunan Provincial Maternal and Child Health Care Hospital, Changsha 410008, China; Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan 410008, China.
  • Wang H; National Health Commission Key Laboratory of Birth Defects Research, Prevention, and Treatment, Hunan Provincial Maternal and Child Health Care Hospital, Changsha 410008, China; Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan 410008, China.
  • Park YJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Marcogliese PC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 22021, USA.
  • Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Chao HT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Med
  • Long H; Neurology Department, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
  • Feng L; Neurology Department, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
  • Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA. Electronic addre
  • Xiao B; Neurology Department, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China. Electronic address: xiaobo_xy@126.com.
Am J Hum Genet ; 106(5): 717-725, 2020 05 07.
Article em En | MEDLINE | ID: mdl-32330417
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Epilepsia Generalizada / Quinases Ciclina-Dependentes / Mutação de Sentido Incorreto / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Animals / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Epilepsia Generalizada / Quinases Ciclina-Dependentes / Mutação de Sentido Incorreto / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Animals / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2020 Tipo de documento: Article