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Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
Happ, Hannah C; Sadleir, Lynette G; Zemel, Matthew; de Valles-Ibáñez, Guillem; Hildebrand, Michael S; McConkie-Rosell, Allyn; McDonald, Marie; May, Halie; Sands, Tristan; Aggarwal, Vimla; Elder, Christopher; Feyma, Timothy; Bayat, Allan; Møller, Rikke S; Fenger, Christina D; Klint Nielsen, Jens Erik; Datta, Anita N; Gorman, Kathleen M; King, Mary D; Linhares, Natalia D; Burton, Barbara K; Paras, Andrea; Ellard, Sian; Rankin, Julia; Shukla, Anju; Majethia, Purvi; Olson, Rory J; Muthusamy, Karthik; Schimmenti, Lisa A; Starnes, Keith; Sedlácková, Lucie; Sterbová, Katalin; Vlcková, Markéta; Lassuthová, Petra; Jahodová, Alena; Porter, Brenda E; Couque, Nathalie; Colin, Estelle; Prouteau, Clément; Collet, Corinne; Smol, Thomas; Caumes, Roseline; Vansenne, Fleur; Bisulli, Francesca; Licchetta, Laura; Person, Richard; Torti, Erin; McWalter, Kirsty; Webster, Richard; Gerard, Elizabeth E.
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  • Happ HC; *These authors contributed equally as first authors.
  • Sadleir LG; †These authors contributed equally as senior authors.
  • Zemel M; From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy
  • de Valles-Ibáñez G; *These authors contributed equally as first authors.
  • Hildebrand MS; †These authors contributed equally as senior authors.
  • McConkie-Rosell A; From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy
  • McDonald M; *These authors contributed equally as first authors.
  • May H; †These authors contributed equally as senior authors.
  • Sands T; From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy
  • Aggarwal V; *These authors contributed equally as first authors.
  • Elder C; †These authors contributed equally as senior authors.
  • Feyma T; From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy
  • Bayat A; *These authors contributed equally as first authors.
  • Møller RS; †These authors contributed equally as senior authors.
  • Fenger CD; From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy
  • Klint Nielsen JE; *These authors contributed equally as first authors.
  • Datta AN; †These authors contributed equally as senior authors.
  • Gorman KM; From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy
  • King MD; *These authors contributed equally as first authors.
  • Linhares ND; †These authors contributed equally as senior authors.
  • Burton BK; From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy
  • Paras A; *These authors contributed equally as first authors.
  • Ellard S; †These authors contributed equally as senior authors.
  • Rankin J; From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy
  • Shukla A; *These authors contributed equally as first authors.
  • Majethia P; †These authors contributed equally as senior authors.
  • Olson RJ; From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy
  • Muthusamy K; *These authors contributed equally as first authors.
  • Schimmenti LA; †These authors contributed equally as senior authors.
  • Starnes K; From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy
  • Sedlácková L; *These authors contributed equally as first authors.
  • Sterbová K; †These authors contributed equally as senior authors.
  • Vlcková M; From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy
  • Lassuthová P; *These authors contributed equally as first authors.
  • Jahodová A; †These authors contributed equally as senior authors.
  • Porter BE; From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy
  • Couque N; *These authors contributed equally as first authors.
  • Colin E; †These authors contributed equally as senior authors.
  • Prouteau C; From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy
  • Collet C; *These authors contributed equally as first authors.
  • Smol T; †These authors contributed equally as senior authors.
  • Caumes R; From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy
  • Vansenne F; *These authors contributed equally as first authors.
  • Bisulli F; †These authors contributed equally as senior authors.
  • Licchetta L; From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy
  • Person R; *These authors contributed equally as first authors.
  • Torti E; †These authors contributed equally as senior authors.
  • McWalter K; From the Ken and Ruth Davee Department of Neurology (K.C.H., E.E.G., G.L.C.), Northwestern University Feinberg School of Medicine, Chicago, IL; University of Otago (L.G.S.), Wellington, New Zealand; University of Washington (M.Z.), Seattle; Department of Medicine (G.d.V.-I., R.W., I.E.S.), Epilepsy
  • Webster R; *These authors contributed equally as first authors.
  • Gerard EE; †These authors contributed equally as senior authors.
Neurology ; 100(6): e603-e615, 2023 02 07.
Article en En | MEDLINE | ID: mdl-36307226
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsia Generalizada / Epilepsia / Canales de Potasio Éter-A-Go-Go Tipo de estudio: Prognostic_studies Límite: Child / Humans / Newborn Idioma: En Revista: Neurology Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsia Generalizada / Epilepsia / Canales de Potasio Éter-A-Go-Go Tipo de estudio: Prognostic_studies Límite: Child / Humans / Newborn Idioma: En Revista: Neurology Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos