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A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.
Mestre, Tiago A; Manole, Andreea; MacDonald, Heather; Riazi, Sheila; Kraeva, Natalia; Hanna, Michael G; Lang, Anthony E; Männikkö, Roope; Yoon, Grace.
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  • Mestre TA; Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University Health Network, Division of Neurology, Department of Medicine, University of Toronto, Toronto, Canada.
  • Manole A; Parkinson's Disease and Movement Disorders Center, Division of Neurology, Department of Medicine, The Ottawa Hospital Research Institute, University of Ottawa, Ottawa, Canada.
  • MacDonald H; MRC Centre for Neuromuscular Disease, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BT, UK.
  • Riazi S; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.
  • Kraeva N; Malignant Hyperthermia Investigation Unit, Toronto General Hospital, Department of Anesthesia, University of Toronto, Toronto, ON, Canada.
  • Hanna MG; Malignant Hyperthermia Investigation Unit, Toronto General Hospital, Department of Anesthesia, University of Toronto, Toronto, ON, Canada.
  • Lang AE; MRC Centre for Neuromuscular Disease, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BT, UK.
  • Männikkö R; Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University Health Network, Division of Neurology, Department of Medicine, University of Toronto, Toronto, Canada.
  • Yoon G; MRC Centre for Neuromuscular Disease, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BT, UK. r.mannikko@ucl.ac.uk.
Neurogenetics ; 17(4): 245-249, 2016 10.
Article en En | MEDLINE | ID: mdl-27271339
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Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxia / Mutación Missense / Canal de Potasio Kv.1.1 / Hipertermia Maligna Límite: Adolescent / Female / Humans Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2016 Tipo del documento: Article País de afiliación: Canadá
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Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxia / Mutación Missense / Canal de Potasio Kv.1.1 / Hipertermia Maligna Límite: Adolescent / Female / Humans Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2016 Tipo del documento: Article País de afiliación: Canadá