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Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function.
Scala, Marcello; Efthymiou, Stephanie; Sultan, Tipu; De Waele, Jolien; Panciroli, Marta; Salpietro, Vincenzo; Maroofian, Reza; Striano, Pasquale; Van Petegem, Filip; Houlden, Henry; Bosmans, Frank.
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  • Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.
  • Efthymiou S; Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.
  • Sultan T; Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.
  • De Waele J; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health Lahore, Lahore, Pakistan.
  • Panciroli M; Faculty of Medicine and Health Sciences, Department of Basic and Applied Medical Sciences, Ghent University, Ghent, Belgium.
  • Salpietro V; Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.
  • Maroofian R; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.
  • Striano P; Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.
  • Van Petegem F; Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.
  • Houlden H; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.
  • Bosmans F; Pediatric Neurology and Muscular Diseases Unit, G. Gaslini Institute, Genoa, Italy.
Epilepsia ; 62(6): e82-e87, 2021 06.
Article en En | MEDLINE | ID: mdl-33901312
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Espasmos Infantiles / Canales de Sodio Activados por Voltaje / Subunidad beta-1 de Canal de Sodio Activado por Voltaje Tipo de estudio: Etiology_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Epilepsia Año: 2021 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Espasmos Infantiles / Canales de Sodio Activados por Voltaje / Subunidad beta-1 de Canal de Sodio Activado por Voltaje Tipo de estudio: Etiology_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Epilepsia Año: 2021 Tipo del documento: Article País de afiliación: Italia