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Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Masnada, Silvia; Hedrich, Ulrike B S; Gardella, Elena; Schubert, Julian; Kaiwar, Charu; Klee, Eric W; Lanpher, Brendan C; Gavrilova, Ralitza H; Synofzik, Matthis; Bast, Thomas; Gorman, Kathleen; King, Mary D; Allen, Nicholas M; Conroy, Judith; Ben Zeev, Bruria; Tzadok, Michal; Korff, Christian; Dubois, Fanny; Ramsey, Keri; Narayanan, Vinodh; Serratosa, Jose M; Giraldez, Beatriz G; Helbig, Ingo; Marsh, Eric; O'Brien, Margaret; Bergqvist, Christina A; Binelli, Adrian; Porter, Brenda; Zaeyen, Eduardo; Horovitz, Dafne D; Wolff, Markus; Marjanovic, Dragan; Caglayan, Hande S; Arslan, Mutluay; Pena, Sergio D J; Sisodiya, Sanjay M; Balestrini, Simona; Syrbe, Steffen; Veggiotti, Pierangelo; Lemke, Johannes R; Møller, Rikke S; Lerche, Holger; Rubboli, Guido.
Afiliação
  • Masnada S; Brain and Behaviour Department, University of Pavia, Italy.
  • Hedrich UBS; Department of Child Neurology and Psychiatry, IRCCS C. Mondino National Neurological Institute, Pavia, Italy.
  • Gardella E; Danish Epilepsy Centre, Dianalund, Denmark.
  • Schubert J; Department of Neurology and Epileptology, Hertie Institute of Clinical Brain Research, University of Tübingen, Germany.
  • Kaiwar C; Clinical Neurophysiology, Danish Epilepsy Centre, Dianalund, Denmark.
  • Klee EW; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
  • Lanpher BC; Department of Neurology and Epileptology, Hertie Institute of Clinical Brain Research, University of Tübingen, Germany.
  • Gavrilova RH; Center for Individualized Medicine, Mayo Clinic, Scottsdale AZ, USA.
  • Synofzik M; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
  • Bast T; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
  • Gorman K; Departments of Clinical Genomics and Neurology Mayo Clinic, Rochester, MN, USA.
  • King MD; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.
  • Allen NM; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Conroy J; Epilepsy Center Kork, Kehl, Germany.
  • Ben Zeev B; Department of Neurology and Clinical Neurophysiology, Children's University Hospital, Temple Street, Dublin, Ireland.
  • Tzadok M; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.
  • Korff C; Department of Neurology and Clinical Neurophysiology, Children's University Hospital, Temple Street, Dublin, Ireland.
  • Dubois F; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.
  • Ramsey K; Department of Neurology and Clinical Neurophysiology, Children's University Hospital, Temple Street, Dublin, Ireland.
  • Narayanan V; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.
  • Serratosa JM; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.
  • Giraldez BG; Sackler school of medicine Tel Aviv University, Tel Aviv, Israel.
  • Helbig I; Pediatric Neurology Unit, Sheba Medical Center, Israel.
  • Marsh E; Pediatric Neurology University Hospitals, Geneva, Switzerland.
  • O'Brien M; Pediatric Departement, Grenoble CHU, France.
  • Bergqvist CA; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Binelli A; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Porter B; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Zaeyen E; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Horovitz DD; Neurology Laboratory and Epilepsy Unit, Department of Neurology, IIS- Fundación Jiménez Díaz, UAM, Madrid, Spain.
  • Wolff M; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  • Marjanovic D; Neurology Laboratory and Epilepsy Unit, Department of Neurology, IIS- Fundación Jiménez Díaz, UAM, Madrid, Spain.
  • Caglayan HS; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  • Arslan M; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, USA.
  • Pena SDJ; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Germany.
  • Sisodiya SM; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, USA.
  • Balestrini S; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, USA.
  • Syrbe S; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, USA.
  • Veggiotti P; Department of Pediatric Neurology, Elizalde Children's Hospital, Buenos Aires, Argentina.
  • Lemke JR; Sociedad Argentina de Neurología Infantil (SANI) / Argentinian Child Neurology Society.
  • Møller RS; Department of Neurology and Neurological Sciences, Stanford University, Palo Alto California, USA.
  • Lerche H; Neuropediatrics Committee of State of Rio De Janeiro, Rio De Janeiro, Brazil.
  • Rubboli G; Medical Genetics Department, National Institute for Women, Children and Adolescents Health Fernandes Figueira - Fiocruz, Rio de Janeiro, Brazil.
Brain ; 140(9): 2337-2354, 2017 Sep 01.
Article em En | MEDLINE | ID: mdl-29050392
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Epilepsia / Canal de Potássio Kv1.2 Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals Idioma: En Revista: Brain Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Epilepsia / Canal de Potássio Kv1.2 Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals Idioma: En Revista: Brain Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália