Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.
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| Title: | Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy. |
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| Authors: | 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. |
| Source: | Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2022 Apr 12; Vol. 119 (15), pp. e2116887119. Date of Electronic Publication: 2022 Apr 04. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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