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De novo GABRG2 mutations associated with epileptic encephalopathies.
Shen, Dingding; Hernandez, Ciria C; Shen, Wangzhen; Hu, Ningning; Poduri, Annapurna; Shiedley, Beth; Rotenberg, Alex; Datta, Alexandre N; Leiz, Steffen; Patzer, Steffi; Boor, Rainer; Ramsey, Kerri; Goldberg, Ethan; Helbig, Ingo; Ortiz-Gonzalez, Xilma R; Lemke, Johannes R; Marsh, Eric D; Macdonald, Robert L.
Afiliação
  • Shen D; 1 The Graduate Program of Neuroscience, Vanderbilt University, Nashville, TN 37232, USA.
  • Hernandez CC; 2 Department of Neurology, Vanderbilt University, Nashville, TN 37240, USA.
  • Shen W; 2 Department of Neurology, Vanderbilt University, Nashville, TN 37240, USA.
  • Hu N; 2 Department of Neurology, Vanderbilt University, Nashville, TN 37240, USA.
  • Poduri A; 3 Epilepsy Genetics Program and the Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Shiedley B; 4 Harvard Medical School, Boston, MA 02115, USA.
  • Rotenberg A; 3 Epilepsy Genetics Program and the Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Datta AN; 3 Epilepsy Genetics Program and the Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Leiz S; 5 Division of Pediatric Neurology and Developmental Medicine, University of Basel Children's Hospital, Basel 4056, Switzerland.
  • Patzer S; 6 Clinic for Children and Adolescents Dritter Orden, Divison of Neuropediatrics, München, 80638 Germany.
  • Boor R; 7 Clinic for Children and Adolescents, Halle/Saale, 06097 Germany.
  • Ramsey K; 8 Department of Pediatric Neurology, Kiel University, Kiel 24118 Germany; Northern German Epilepsy Centre for Children and Adolescents, Schwentinental - Raisdorf, 24223 Germany.
  • Goldberg E; 9 Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, 85004 AZ, USA.
  • Helbig I; 10 Departments of Neurology and Paediatrics, Division of Child Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Ortiz-Gonzalez XR; 11 Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Lemke JR; 10 Departments of Neurology and Paediatrics, Division of Child Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Marsh ED; 11 Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Macdonald RL; 10 Departments of Neurology and Paediatrics, Division of Child Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Brain ; 140(1): 49-67, 2017 01.
Article em En | MEDLINE | ID: mdl-27864268
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores de GABA-A / Epilepsia / Epilepsia Resistente a Medicamentos Tipo de estudo: Clinical_trials / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores de GABA-A / Epilepsia / Epilepsia Resistente a Medicamentos Tipo de estudo: Clinical_trials / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos