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Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.
Addis, Laura; Sproviero, William; Thomas, Sanjeev V; Caraballo, Roberto H; Newhouse, Stephen J; Gomez, Kumudini; Hughes, Elaine; Kinali, Maria; McCormick, David; Hannan, Siobhan; Cossu, Silvia; Taylor, Jacqueline; Akman, Cigdem I; Wolf, Steven M; Mandelbaum, David E; Gupta, Rajesh; van der Spek, Rick A; Pruna, Dario; Pal, Deb K.
Afiliação
  • Addis L; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK.
  • Sproviero W; Neuroscience Discovery Research, Eli Lilly and Company, Surrey, UK.
  • Thomas SV; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK.
  • Caraballo RH; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.
  • Newhouse SJ; Department of Neurology, Hospital de Pediatría Prof. Dr. J.P. Garrahan, Combate de los Pozos 1881, Buenos Aires, Argentina.
  • Gomez K; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
  • Hughes E; NIHR Biomedical Research Centre at South London and Maudsley NHS Foundation Trust, Bethlem Royal Hospital, Beckenham, UK.
  • Kinali M; Farr Institute of Health Informatics Research, UCL Institute of Health Informatics, University College London, London, UK.
  • McCormick D; Department of Paediatrics, University Hospital Lewisham, Lewisham and Greenwich NHS Trust, London, UK.
  • Hannan S; Department of Paediatric Neurosciences, Evelina London Children's Hospital, St Thomas' Hospital, London, UK.
  • Cossu S; Department of Paediatric Neurology, Chelsea and Westminster Hospital, London, UK.
  • Taylor J; Department of Paediatric Neurosciences, Evelina London Children's Hospital, St Thomas' Hospital, London, UK.
  • Akman CI; Department of Paediatric Neurology, Chelsea and Westminster Hospital, London, UK.
  • Wolf SM; Neurosurgery Unit, Neuroscience and Neurorehabilitation Department, Bambino Gesù Children Hospital, Rome, Italy.
  • Mandelbaum DE; Neurology Unit, Pediatric Hospital A. Cao, Brotzu Hospital Trust, Cagliari, Italy.
  • Gupta R; Barnet and Chase Farm Hospitals, London, UK.
  • van der Spek RA; Division of Pediatric Neurology, College of Physicians and Surgeons of Columbia University, New York City, New York, USA.
  • Pruna D; Department of Neurology, Mount Sinai Health System, New York City, New York, USA.
  • Pal DK; Departments of Pediatrics, Alpert Medical School of Brown University, Providence, Rhode Island, USA.
J Med Genet ; 55(9): 607-616, 2018 09.
Article em En | MEDLINE | ID: mdl-29789371

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia Rolândica / Predisposição Genética para Doença / Variações do Número de Cópias de DNA / Neurônios Colinérgicos Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male País/Região como assunto: America do norte / America do sul / Argentina / Asia / Europa Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia Rolândica / Predisposição Genética para Doença / Variações do Número de Cópias de DNA / Neurônios Colinérgicos Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male País/Região como assunto: America do norte / America do sul / Argentina / Asia / Europa Idioma: En Ano de publicação: 2018 Tipo de documento: Article