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Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.
Olson, Heather E; Kelly, McKenna; LaCoursiere, Christopher M; Pinsky, Rebecca; Tambunan, Dimira; Shain, Catherine; Ramgopal, Sriram; Takeoka, Masanori; Libenson, Mark H; Julich, Kristina; Loddenkemper, Tobias; Marsh, Eric D; Segal, Devorah; Koh, Susan; Salman, Michael S; Paciorkowski, Alex R; Yang, Edward; Bergin, Ann M; Sheidley, Beth Rosen; Poduri, Annapurna.
Afiliación
  • Olson HE; Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA.
  • Kelly M; Harvard Medical School, Boston, MA.
  • LaCoursiere CM; Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA.
  • Pinsky R; Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA.
  • Tambunan D; Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA.
  • Shain C; Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA.
  • Ramgopal S; Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA.
  • Takeoka M; Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA.
  • Libenson MH; Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA.
  • Julich K; Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh School of Medicine, Pittsburgh, PA.
  • Loddenkemper T; Harvard Medical School, Boston, MA.
  • Marsh ED; Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA.
  • Segal D; Harvard Medical School, Boston, MA.
  • Koh S; Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA.
  • Salman MS; Department of Neurology, Boston Children's Hospital, Boston, MA.
  • Paciorkowski AR; Harvard Medical School, Boston, MA.
  • Yang E; Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA.
  • Bergin AM; Neurogenetics Program, Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Sheidley BR; Department of Neurology, Rutgers New Jersey Medical School, Newark, NJ.
  • Poduri A; Department of Pediatrics, Division of Pediatric Neurology, Weill Cornell Medicine, New York, NY.
Ann Neurol ; 81(3): 419-429, 2017 Mar.
Article en En | MEDLINE | ID: mdl-28133863

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Espasmos Infantiles / Canal de Potasio KCNQ2 / Aminoacil-ARNt Sintetasas Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Ann Neurol Año: 2017 Tipo del documento: Article País de afiliación: Marruecos

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Espasmos Infantiles / Canal de Potasio KCNQ2 / Aminoacil-ARNt Sintetasas Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Ann Neurol Año: 2017 Tipo del documento: Article País de afiliación: Marruecos