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The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
Zerem, Ayelet; Haginoya, Kazuhiro; Lev, Dorit; Blumkin, Lubov; Kivity, Sara; Linder, Ilan; Shoubridge, Cheryl; Palmer, Elizabeth Emma; Field, Michael; Boyle, Jackie; Chitayat, David; Gaillard, William D; Kossoff, Eric H; Willems, Marjolaine; Geneviève, David; Tran-Mau-Them, Frederic; Epstein, Orna; Heyman, Eli; Dugan, Sarah; Masurel-Paulet, Alice; Piton, Ame'lie; Kleefstra, Tjitske; Pfundt, Rolph; Sato, Ryo; Tzschach, Andreas; Matsumoto, Naomichi; Saitsu, Hirotomo; Leshinsky-Silver, Esther; Lerman-Sagie, Tally.
Afiliación
  • Zerem A; Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.
  • Haginoya K; Department of Neurology, Takuto Rehabilitation Center for Children, Miyagi Children's Hospital, Sendai, Japan.
  • Lev D; Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.
  • Blumkin L; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Kivity S; Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.
  • Linder I; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Shoubridge C; Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.
  • Palmer EE; Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.
  • Field M; Department of Paediatrics, School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia.
  • Boyle J; GOLD Genetics of Learning Disability Service, Waratah, New South Wales, Australia.
  • Chitayat D; University of New South Wales, Sydney, New South Wales, Australia.
  • Gaillard WD; Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
  • Kossoff EH; GOLD Genetics of Learning Disability Service, Waratah, New South Wales, Australia.
  • Willems M; University of New South Wales, Sydney, New South Wales, Australia.
  • Geneviève D; GOLD Genetics of Learning Disability Service, Waratah, New South Wales, Australia.
  • Tran-Mau-Them F; University of New South Wales, Sydney, New South Wales, Australia.
  • Epstein O; Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
  • Heyman E; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital of Sickkids, University of Toronto, Toronto, Ontario, Canada.
  • Dugan S; Pediatrics and Neurology, Division Epilepsy and Neurophysiology, Comprehensive Pediatric Epilepsy Program, Center for Neuroscience Research, Children's National Medical Center, George Washington University, Washington, District of Columbia, U.S.A.
  • Masurel-Paulet A; Departments of Pediatrics and Neurology, The Johns Hopkins Hospital, Baltimore, Maryland, U.S.A.
  • Piton A; Department of Medical Genetics, Rare Diseases and Personalized Medicine, Faculty of Medicine, Unit INSERM 1183, CHU Montpellier, University of Montpellier, Montpellier, France.
  • Kleefstra T; Department of Medical Genetics, Rare Diseases and Personalized Medicine, Faculty of Medicine, Unit INSERM 1183, CHU Montpellier, University of Montpellier, Montpellier, France.
  • Pfundt R; Department of Medical Genetics, Rare Diseases and Personalized Medicine, Faculty of Medicine, Unit INSERM 1183, CHU Montpellier, University of Montpellier, Montpellier, France.
  • Sato R; Pediatric Neurology Department, Pediatric Epilepsy Service, Asaf Harofeh Medical Center, Zerifin, Israel.
  • Tzschach A; Pediatric Neurology Department, Pediatric Epilepsy Service, Asaf Harofeh Medical Center, Zerifin, Israel.
  • Matsumoto N; Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota, U.S.A.
  • Saitsu H; Reference Center for Developmental Anomalies and Syndromes, Children's Hospital, CHU Dijon, Dijon, France.
  • Leshinsky-Silver E; Department of Translational Medicine and Neurogenetics, IGBMC, CNRS UMR 7104/INSERM U964/Strasbourg University, Strasbourg, France.
  • Lerman-Sagie T; Genetic Diagnostic Laboratory, University Hospitals of Strasbourg, Strasbourg, France.
Epilepsia ; 57(11): 1858-1869, 2016 11.
Article en En | MEDLINE | ID: mdl-27665735
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Factores de Intercambio de Guanina Nucleótido / Epilepsia / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Factores de Intercambio de Guanina Nucleótido / Epilepsia / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article