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Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh, Hyun Yong; Smith, Lacey; Wiltrout, Kimberly N; Podury, Archana; Chourasia, Nitish; D'Gama, Alissa M; Park, Meredith; Knight, Devon; Sexton, Emma L; Koh, Julia J; Oby, Brandon; Pinsky, Rebecca; Shao, Diane D; French, Courtney E; Shao, Wanqing; Rockowitz, Shira; Sliz, Piotr; Zhang, Bo; Mahida, Sonal; Moufawad El Achkar, Christelle; Yuskaitis, Christopher J; Olson, Heather E; Sheidley, Beth Rosen; Poduri, Annapurna H.
Afiliación
  • Koh HY; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.
  • Smith L; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • Wiltrout KN; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Podury A; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
  • Chourasia N; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.
  • D'Gama AM; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • Park M; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.
  • Knight D; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • Sexton EL; Department of Neurology, Harvard Medical School, Boston, Massachusetts.
  • Koh JJ; Harvard Medical School, Boston, Massachusetts.
  • Oby B; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • Pinsky R; Department of Pediatrics and Neurology, University of Tennessee Health Science Center, Memphis.
  • Shao DD; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.
  • French CE; Harvard Medical School, Boston, Massachusetts.
  • Shao W; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.
  • Rockowitz S; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.
  • Sliz P; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.
  • Zhang B; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.
  • Mahida S; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.
  • Moufawad El Achkar C; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.
  • Yuskaitis CJ; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.
  • Olson HE; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts.
  • Sheidley BR; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • Poduri AH; Department of Neurology, Harvard Medical School, Boston, Massachusetts.
JAMA Netw Open ; 6(7): e2324380, 2023 07 03.
Article en En | MEDLINE | ID: mdl-37471090

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Epilepsia / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: JAMA Netw Open Año: 2023 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Epilepsia / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: JAMA Netw Open Año: 2023 Tipo del documento: Article