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Two epilepsy-associated variants in KCNA2 (KV 1.2) at position H310 oppositely affect channel functional expression.
Mínguez-Viñas, Teresa; Prakash, Varsha; Wang, Kaiqian; Lindström, Sarah H; Pozzi, Serena; Scott, Stuart A; Spiteri, Elizabeth; Stevenson, David A; Ashley, Euan A; Gunnarsson, Cecilia; Pantazis, Antonios.
  • Mínguez-Viñas T; Division of Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.
  • Prakash V; Division of Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.
  • Wang K; Division of Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.
  • Lindström SH; Division of Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.
  • Pozzi S; Division of Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.
  • Scott SA; Department of Pathology, Stanford University School of Medicine, Stanford, California, USA.
  • Spiteri E; Department of Pathology, Stanford University School of Medicine, Stanford, California, USA.
  • Stevenson DA; Division of Medical Genetics, Stanford University, Palo Alto, California, USA.
  • Ashley EA; Division of Medical Genetics, Stanford University, Palo Alto, California, USA.
  • Gunnarsson C; Division of Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.
  • Pantazis A; Department of Clinical Genetics, Linköping University, Linköping, Sweden.
J Physiol ; 601(23): 5367-5389, 2023 Dec.
Article en En | MEDLINE | ID: mdl-37883018
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Epilepsia Límite: Child / Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Epilepsia Límite: Child / Humans Idioma: En Año: 2023 Tipo del documento: Article