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A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by ß-Hydroxybutyrate.
Miceli, Francesco; Carotenuto, Lidia; Barrese, Vincenzo; Soldovieri, Maria Virginia; Heinzen, Erin L; Mandel, Arthur M; Lippa, Natalie; Bier, Louise; Goldstein, David B; Cooper, Edward C; Cilio, Maria Roberta; Taglialatela, Maurizio; Sands, Tristan T.
Afiliação
  • Miceli F; Department of Neuroscience, University of Naples "Federico II", Naples, Italy.
  • Carotenuto L; Department of Neuroscience, University of Naples "Federico II", Naples, Italy.
  • Barrese V; Department of Neuroscience, University of Naples "Federico II", Naples, Italy.
  • Soldovieri MV; Department of Medicine and Health Science, University of Molise, Campobasso, Italy.
  • Heinzen EL; Eshelman School of Pharmacy, Division of Pharmacotherapy and Experimental Therapeutics, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
  • Mandel AM; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, United States.
  • Lippa N; Department of Neurology, Columbia University Irving Medical Center, New York, NY, United States.
  • Bier L; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, United States.
  • Goldstein DB; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, United States.
  • Cooper EC; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, United States.
  • Cilio MR; Departments of Neurology, Neuroscience, and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
  • Taglialatela M; Department of Pediatrics and Institute of Experimental and Clinical Research, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.
  • Sands TT; Department of Neuroscience, University of Naples "Federico II", Naples, Italy.
Front Physiol ; 11: 1040, 2020.
Article em En | MEDLINE | ID: mdl-33013448
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article