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Clinical and genetic spectrum of SCN2A-associated episodic ataxia.
Schwarz, N; Bast, T; Gaily, E; Golla, G; Gorman, K M; Griffiths, L R; Hahn, A; Hukin, J; King, M; Korff, C; Miranda, M J; Møller, R S; Neubauer, B; Smith, R A; Smol, T; Striano, P; Stroud, B; Vaccarezza, M; Kluger, G; Lerche, H; Fazeli, W.
  • Schwarz N; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Bast T; Epilepsy Center Kork, Kehl, Germany; Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Gaily E; Department of Pediatric Neurology, Children's Hospital, Helsinki University Hospital, Helsinki, Finland.
  • Golla G; Klinik für Kinder- und Jugendmedizin, Klinikum Lippe GmbH, Detmold, Germany.
  • Gorman KM; Children's University Hospital, Temple Street, Dublin, Ireland.
  • Griffiths LR; Institute of Health and Biomedical Innovation, QUT, Queensland, Australia.
  • Hahn A; Department of Neuropediatrics, University Medical Center Giessen and Marburg, Giessen, Germany.
  • Hukin J; British Columbia Children's Hospital, 4480 Oak St, Vancouver, BC, Canada.
  • King M; Children's University Hospital, Temple Street, Dublin, Ireland.
  • Korff C; Pediatric Neurology, University Hospitals Geneva, Geneva, Switzerland.
  • Miranda MJ; Herlev University Hospital, Department of Pediatrics, Copenhagen, Denmark.
  • Møller RS; The Danish Epilepsy Centre, Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.
  • Neubauer B; Department of Neuropediatrics, University Medical Center Giessen and Marburg, Giessen, Germany.
  • Smith RA; Institute of Health and Biomedical Innovation, QUT, Queensland, Australia.
  • Smol T; Institut de Genetique Medicale, CHRU Lille, Université de Lille, Lille, France.
  • Striano P; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, IRCCS "G. Gaslini" Institute, Genova, Italy.
  • Stroud B; Golisano Children's Hospital of Southwest Florida, Fort Myers, FL, USA.
  • Vaccarezza M; Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
  • Kluger G; Neuropediatric Clinic and Clinic for Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schoen Klinik, Vogtareuth, Germany; Research Institute for Rehabilitation, Transition and Palliation, Paracelsus Medical University, Salzburg, Austria.
  • Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Fazeli W; Pediatric Neurology, Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany; Institute for Molecular and Behavioral Neuroscience, Faculty of Medicine, University of Cologne, Cologne, Germany. Electronic address: walid.fazeli@uk-koeln.de
Eur J Paediatr Neurol ; 23(3): 438-447, 2019 May.
Article en En | MEDLINE | ID: mdl-30928199
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxia / Canal de Sodio Activado por Voltaje NAV1.2 Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Infant / Male Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxia / Canal de Sodio Activado por Voltaje NAV1.2 Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Infant / Male Idioma: En Año: 2019 Tipo del documento: Article