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PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.

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第一作者： Sugi,Panneerselvam

第一单位： Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

作者： Sugi,Panneerselvam ^[1] ; Julia,Wang ^[2] ; Wenmiao,Zhu ^[3] ; Hongzheng,Dai ^[4] ; John G,Pappas ^[5] ; Rachel,Rabin ^[5] ; Karen J,Low ^[6] ; Jill A,Rosenfeld ^[1] ; Lisa,Emrick ^[7] ; Rui,Xiao ^[4] ; Fan,Xia ^[4] ; Yaping,Yang ^[4] ; Christine M,Eng ^[4] ; Anne,Anderson ^[8] ; Vann,Chau ^[9] ; Claudia,Soler-Alfonso ^[8] ; Haley,Streff ^[8] ; Seema R,Lalani ^[8] ; Saadet,Mercimek-Andrews ^[10] ; Undiagnosed Diseases Network ^[11] ; DDD Study ^[4] ; Weimin,Bi

作者单位： Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. ^[1] Medical Scientist Training Program and Developmental Biology, Baylor College of Medicine, Houston, Texas, USA. ^[2] Baylor Genetics Laboratories, Houston, Texas, USA. ^[3] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.;Baylor Genetics Laboratories, Houston, Texas, USA. ^[4] Department of Pediatrics, Clinical Genetic Services, NYU School of Medicine, New York, New York, USA. ^[5] University Hospital Bristol NHS Foundation Trust, Bristol, UK. ^[6] Texas Children's Hospital, Houston, Texas, USA. ^[7] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.;Texas Children's Hospital, Houston, Texas, USA. ^[8] Division of Neurology, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada. ^[9] Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.;Department of Medical Genetics, University of Alberta, Stollery Children's Hospital, Edmonton, Alberta, Canada. ^[10] Wellcome Trust Sanger Institute, Cambridge, UK. ^[11]

关键词 calcineurin constitutive activation epileptic syndromes gain-of-function loss-of-function truncating variants