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De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Myers, Candace T; Stong, Nicholas; Mountier, Emily I; Helbig, Katherine L; Freytag, Saskia; Sullivan, Joseph E; Ben Zeev, Bruria; Nissenkorn, Andreea; Tzadok, Michal; Heimer, Gali; Shinde, Deepali N; Rezazadeh, Arezoo; Regan, Brigid M; Oliver, Karen L; Ernst, Michelle E; Lippa, Natalie C; Mulhern, Maureen S; Ren, Zhong; Poduri, Annapurna; Andrade, Danielle M; Bird, Lynne M; Bahlo, Melanie; Berkovic, Samuel F; Lowenstein, Daniel H; Scheffer, Ingrid E; Sadleir, Lynette G; Goldstein, David B; Mefford, Heather C; Heinzen, Erin L.
Afiliación
  • Myers CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Stong N; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA.
  • Mountier EI; Department of Paediatrics and Child Health, University of Otago, Wellington 6242, New Zealand.
  • Helbig KL; Ambry Genetics, Aliso Viejo, CA 92656, USA.
  • Freytag S; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, The University of Melbourne, Parkville, VIC 3050, Australia.
  • Sullivan JE; Department of Neurology & Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA.
  • Ben Zeev B; Sheba Medical Center, Ramat Gan, Israel, Sackler School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Nissenkorn A; Sheba Medical Center, Ramat Gan, Israel, Sackler School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Tzadok M; Sheba Medical Center, Ramat Gan, Israel, Sackler School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Heimer G; Sheba Medical Center, Ramat Gan, Israel, Sackler School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Shinde DN; Ambry Genetics, Aliso Viejo, CA 92656, USA.
  • Rezazadeh A; Division of Neurology, Epilepsy Genetics Research Program, Toronto Western Hospital, Krembil Neuroscience Centre, University of Toronto, Toronto, ON M5T 2S8, Canada.
  • Regan BM; Division of Neurology, Epilepsy Genetics Research Program, Toronto Western Hospital, Krembil Neuroscience Centre, University of Toronto, Toronto, ON M5T 2S8, Canada.
  • Oliver KL; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC 3084, Australia.
  • Ernst ME; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA.
  • Lippa NC; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA.
  • Mulhern MS; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA.
  • Ren Z; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA.
  • Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital and Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
  • Andrade DM; Division of Neurology, Epilepsy Genetics Research Program, Toronto Western Hospital, Krembil Neuroscience Centre, University of Toronto, Toronto, ON M5T 2S8, Canada.
  • Bird LM; Department of Pediatrics, University of California, San Diego, San Diego, CA 92037, USA; Rady Children's Hospital, San Diego, CA 92037, USA.
  • Bahlo M; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, The University of Melbourne, Parkville, VIC 3050, Australia.
  • Berkovic SF; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC 3084, Australia.
  • Lowenstein DH; Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA.
  • Scheffer IE; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC 3084, Australia; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, VIC 3010, Australia; Department of Paediatrics, Royal Children's Hospital, The Un
  • Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington 6242, New Zealand.
  • Goldstein DB; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA.
  • Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA. Electronic address: hmefford@uw.edu.
  • Heinzen EL; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032, USA. Electronic address: eh2682@cumc.columbia.edu.
Am J Hum Genet ; 101(4): 516-524, 2017 Oct 05.
Article en En | MEDLINE | ID: mdl-28942967
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Transmisión Sináptica / Calcineurina / Epilepsia / Trastornos del Neurodesarrollo / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Transmisión Sináptica / Calcineurina / Epilepsia / Trastornos del Neurodesarrollo / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos