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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.
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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  Data: Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.
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  Data: <searchLink fieldCode="AU" term="%22Nappi+M%22">Nappi M</searchLink>; Department of Neuroscience, University of Naples 'Federico II', 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Barrese+V%22">Barrese V</searchLink>; Department of Neuroscience, University of Naples 'Federico II', 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Carotenuto+L%22">Carotenuto L</searchLink>; Department of Neuroscience, University of Naples 'Federico II', 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Lesca+G%22">Lesca G</searchLink>; Department of Medical Genetics, Lyon University Hospital, 69677 Lyon, France.<br /><searchLink fieldCode="AU" term="%22Labalme+A%22">Labalme A</searchLink>; Department of Medical Genetics, Lyon University Hospital, 69677 Lyon, France.<br /><searchLink fieldCode="AU" term="%22Ville+D%22">Ville D</searchLink>; Pediatric Neurology, Lyon University Hospital, Claude Bernard Lyon 1 University, 69677 Lyon, France.<br /><searchLink fieldCode="AU" term="%22Smol+T%22">Smol T</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Rama+M%22">Rama M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Dieux-Coeslier+A%22">Dieux-Coeslier A</searchLink>; Clinique de Génétique-Guy Fontaine, Centre Hospitalier Universitaire de Lille, F-59000 Lille, France.<br /><searchLink fieldCode="AU" term="%22Rivier-Ringenbach+C%22">Rivier-Ringenbach C</searchLink>; Department of Pediatrics, Hôpital Nord-Ouest, Villefranche-sur-Saône, 69400 France.<br /><searchLink fieldCode="AU" term="%22Soldovieri+MV%22">Soldovieri MV</searchLink>; Department of Medicine and Health Science, University of Molise, 86100 Campobasso, Italy.<br /><searchLink fieldCode="AU" term="%22Ambrosino+P%22">Ambrosino P</searchLink>; Department of Science and Technology, University of Sannio, Benevento, 82100 Italy.<br /><searchLink fieldCode="AU" term="%22Mosca+I%22">Mosca I</searchLink>; Department of Medicine and Health Science, University of Molise, 86100 Campobasso, Italy.<br /><searchLink fieldCode="AU" term="%22Pusch+M%22">Pusch M</searchLink>; Institute of Biophysics, Italian National Research Council, 16149 Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Miceli+F%22">Miceli F</searchLink>; Department of Neuroscience, University of Naples 'Federico II', 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Taglialatela+M%22">Taglialatela M</searchLink>; Department of Neuroscience, University of Naples 'Federico II', 80131 Naples, Italy.
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  Data: <searchLink fieldCode="JN" term="%227505876%22">Proceedings of the National Academy of Sciences of the United States of America</searchLink> [Proc Natl Acad Sci U S A] 2022 Apr 12; Vol. 119 (15), pp. e2116887119. <i>Date of Electronic Publication: </i>2022 Apr 04.
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