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A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly.
Imitola, Jaime; Khurana, Divya S; Teplyuk, Nadiya M; Zucker, Mark; Jethva, Reena; Legido, Agustin; Krichevsky, Ana M; Frangieh, Michael; Walsh, Christopher A; Carvalho, Karen S.
Afiliación
  • Imitola J; Laboratory for Neural Stem Cells and Functional Neurogenetics, Division of Neuroimmunology and Multiple Sclerosis, Departments of Neurology and Neuroscience, The Ohio State University Wexner Medical Center, Columbus, Ohio.
  • Khurana DS; Section of Pediatric Neurology, St. Christopher Hospital for Children's, Drexel University College of Medicine, Philaldelphia.
  • Teplyuk NM; Center for Neurologic Diseases, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Zucker M; Laboratory for Neural Stem Cells and Functional Neurogenetics, Division of Neuroimmunology and Multiple Sclerosis, Departments of Neurology and Neuroscience, The Ohio State University Wexner Medical Center, Columbus, Ohio.
  • Jethva R; Section of Pediatric Neurology, St. Christopher Hospital for Children's, Drexel University College of Medicine, Philaldelphia.
  • Legido A; Section of Pediatric Neurology, St. Christopher Hospital for Children's, Drexel University College of Medicine, Philaldelphia.
  • Krichevsky AM; Center for Neurologic Diseases, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Frangieh M; Laboratory for Neural Stem Cells and Functional Neurogenetics, Division of Neuroimmunology and Multiple Sclerosis, Departments of Neurology and Neuroscience, The Ohio State University Wexner Medical Center, Columbus, Ohio.
  • Walsh CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Carvalho KS; Section of Pediatric Neurology, St. Christopher Hospital for Children's, Drexel University College of Medicine, Philaldelphia.
Am J Med Genet A ; 167A(11): 2808-16, 2015 Nov.
Article en En | MEDLINE | ID: mdl-26238961
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Proteínas Serina-Treonina Quinasas / Péptidos y Proteínas de Señalización Intracelular / Epilepsia / Células-Madre Neurales / Microcefalia Tipo de estudio: Prognostic_studies Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Proteínas Serina-Treonina Quinasas / Péptidos y Proteínas de Señalización Intracelular / Epilepsia / Células-Madre Neurales / Microcefalia Tipo de estudio: Prognostic_studies Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article