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Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.
Nappi, Mario; Barrese, Vincenzo; Carotenuto, Lidia; Lesca, Gaetan; Labalme, Audrey; Ville, Dorothee; Smol, Thomas; Rama, Mélanie; Dieux-Coeslier, Anne; Rivier-Ringenbach, Clotilde; Soldovieri, Maria Virginia; Ambrosino, Paolo; Mosca, Ilaria; Pusch, Michael; Miceli, Francesco; Taglialatela, Maurizio.
Afiliação
  • Nappi M; Department of Neuroscience, University of Naples "Federico II", 80131 Naples, Italy.
  • Barrese V; Department of Neuroscience, University of Naples "Federico II", 80131 Naples, Italy.
  • Carotenuto L; Department of Neuroscience, University of Naples "Federico II", 80131 Naples, Italy.
  • Lesca G; Department of Medical Genetics, Lyon University Hospital, 69677 Lyon, France.
  • Labalme A; Department of Medical Genetics, Lyon University Hospital, 69677 Lyon, France.
  • Ville D; Pediatric Neurology, Lyon University Hospital, Claude Bernard Lyon 1 University, 69677 Lyon, France.
  • Smol T; Equipe d'Accueil 7364, Maladies Rares du Developpement Embryonnaire et du Metabolisme, Institut de Génétique Médicale, Centre Hospitalier Universitaire de Lille, Université de Lille, F-59000 Lille, France.
  • Rama M; Equipe d'Accueil 7364, Maladies Rares du Developpement Embryonnaire et du Metabolisme, Institut de Génétique Médicale, Centre Hospitalier Universitaire de Lille, Université de Lille, F-59000 Lille, France.
  • Dieux-Coeslier A; Clinique de Génétique-Guy Fontaine, Centre Hospitalier Universitaire de Lille, F-59000 Lille, France.
  • Rivier-Ringenbach C; Department of Pediatrics, Hôpital Nord-Ouest, Villefranche-sur-Saône, 69400 France.
  • Soldovieri MV; Department of Medicine and Health Science, University of Molise, 86100 Campobasso, Italy.
  • Ambrosino P; Department of Science and Technology, University of Sannio, Benevento, 82100 Italy.
  • Mosca I; Department of Medicine and Health Science, University of Molise, 86100 Campobasso, Italy.
  • Pusch M; Institute of Biophysics, Italian National Research Council, 16149 Genova, Italy.
  • Miceli F; Department of Neuroscience, University of Naples "Federico II", 80131 Naples, Italy.
  • Taglialatela M; Department of Neuroscience, University of Naples "Federico II", 80131 Naples, Italy.
Proc Natl Acad Sci U S A ; 119(15): e2116887119, 2022 04 12.
Article em En | MEDLINE | ID: mdl-35377796
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canais de Potássio KCNQ / Epilepsia Resistente a Medicamentos / Mutação com Ganho de Função Limite: Adolescent / Child / Female / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canais de Potássio KCNQ / Epilepsia Resistente a Medicamentos / Mutação com Ganho de Função Limite: Adolescent / Child / Female / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article