Your browser doesn't support javascript.
loading
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.
Punetha, Jaya; Karaca, Ender; Gezdirici, Alper; Lamont, Ryan E; Pehlivan, Davut; Marafi, Dana; Appendino, Juan P; Hunter, Jill V; Akdemir, Zeynep C; Fatih, Jawid M; Jhangiani, Shalini N; Gibbs, Richard A; Innes, A Micheil; Posey, Jennifer E; Lupski, James R.
Afiliação
  • Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Gezdirici A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
  • Lamont RE; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Pehlivan D; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
  • Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Appendino JP; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
  • Hunter JV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Akdemir ZC; Clinical Neuroscience, Department of Pediatrics, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
  • Fatih JM; Department of Radiology, Texas Children's Hospital, Houston, Texas.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Innes AM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
Ann Clin Transl Neurol ; 6(8): 1395-1406, 2019 08.
Article em En | MEDLINE | ID: mdl-31402629
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Canais de Cálcio / Doenças Cerebelares / Epilepsia Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Revista: Ann Clin Transl Neurol Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Canais de Cálcio / Doenças Cerebelares / Epilepsia Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Revista: Ann Clin Transl Neurol Ano de publicação: 2019 Tipo de documento: Article