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Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development.
Fazeli, Walid; Becker, Kerstin; Herkenrath, Peter; Düchting, Christoph; Körber, Friederike; Landgraf, Pablo; Nürnberg, Peter; Altmüller, Janine; Thiele, Holger; Koy, Anne; Liebau, Max C; Simon, Thorsten; Dötsch, Jörg; Cirak, Sebahattin.
Afiliación
  • Fazeli W; Division of Pediatric Neurology, Department of Pediatrics, University Hospital Cologne, Cologne, Germany.
  • Becker K; Institute for Molecular and Behavioral Neuroscience, University of Cologne, Cologne, Germany.
  • Herkenrath P; Division of Pediatric Neurology, Department of Pediatrics, University Hospital Cologne, Cologne, Germany.
  • Düchting C; Center for Molecular Medicine, University of Cologne, Cologne, Germany.
  • Körber F; Division of Pediatric Neurology, Department of Pediatrics, University Hospital Cologne, Cologne, Germany.
  • Landgraf P; Division of Pediatric Neurology, Department of Pediatrics, University Hospital Cologne, Cologne, Germany.
  • Nürnberg P; Department of Pediatric Radiology, University Hospital Cologne, Cologne, Germany.
  • Altmüller J; Department of Pediatric Oncology and Hematology, University Hospital Cologne, Cologne, Germany.
  • Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Koy A; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Liebau MC; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Simon T; Division of Pediatric Neurology, Department of Pediatrics, University Hospital Cologne, Cologne, Germany.
  • Dötsch J; Center for Molecular Medicine, University of Cologne, Cologne, Germany.
  • Cirak S; Department of Pediatrics, University Hospital Cologne, Cologne, Germany.
Neuropediatrics ; 49(6): 379-384, 2018 12.
Article en En | MEDLINE | ID: mdl-30165711

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Trastornos del Habla / Ataxia Cerebelosa / Canal de Sodio Activado por Voltaje NAV1.2 Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adult / Female / Humans / Infant / Male Idioma: En Revista: Neuropediatrics Año: 2018 Tipo del documento: Article País de afiliación: Alemania

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Trastornos del Habla / Ataxia Cerebelosa / Canal de Sodio Activado por Voltaje NAV1.2 Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adult / Female / Humans / Infant / Male Idioma: En Revista: Neuropediatrics Año: 2018 Tipo del documento: Article País de afiliación: Alemania