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A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.
Gururaj, Sushmitha; Palmer, Elizabeth Emma; Sheehan, Garrett D; Kandula, Tejaswi; Macintosh, Rebecca; Ying, Kevin; Morris, Paula; Tao, Jiang; Dias, Kerith-Rae; Zhu, Ying; Dinger, Marcel E; Cowley, Mark J; Kirk, Edwin P; Roscioli, Tony; Sachdev, Rani; Duffey, Michael E; Bye, Ann; Bhattacharjee, Arin.
Afiliação
  • Gururaj S; Pharmacology and Toxicology, University at Buffalo - The State University of New York, Buffalo, NY 14214, USA.
  • Palmer EE; Sydney Children's Hospital, Randwick, NSW 2031, Australia; University of New South Wales, Sydney, NSW 2031, Australia; Genetics of Learning Disability Service, Waratah, NSW 2298, Australia.
  • Sheehan GD; Pharmacology and Toxicology, University at Buffalo - The State University of New York, Buffalo, NY 14214, USA.
  • Kandula T; Sydney Children's Hospital, Randwick, NSW 2031, Australia; University of New South Wales, Sydney, NSW 2031, Australia.
  • Macintosh R; Sydney Children's Hospital, Randwick, NSW 2031, Australia.
  • Ying K; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW 2298, Australia.
  • Morris P; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW 2298, Australia.
  • Tao J; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW 2298, Australia.
  • Dias KR; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW 2298, Australia.
  • Zhu Y; Genetics of Learning Disability Service, Waratah, NSW 2298, Australia; SEALS Pathology, Randwick, NSW 2031, Australia.
  • Dinger ME; University of New South Wales, Sydney, NSW 2031, Australia; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW 2298, Australia.
  • Cowley MJ; University of New South Wales, Sydney, NSW 2031, Australia; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW 2298, Australia.
  • Kirk EP; Sydney Children's Hospital, Randwick, NSW 2031, Australia; University of New South Wales, Sydney, NSW 2031, Australia; SEALS Pathology, Randwick, NSW 2031, Australia.
  • Roscioli T; Sydney Children's Hospital, Randwick, NSW 2031, Australia; University of New South Wales, Sydney, NSW 2031, Australia; SEALS Pathology, Randwick, NSW 2031, Australia.
  • Sachdev R; Sydney Children's Hospital, Randwick, NSW 2031, Australia; University of New South Wales, Sydney, NSW 2031, Australia.
  • Duffey ME; Physiology and Biophysics, University at Buffalo - The State University of New York, Buffalo, NY 14214, USA.
  • Bye A; Sydney Children's Hospital, Randwick, NSW 2031, Australia; University of New South Wales, Sydney, NSW 2031, Australia.
  • Bhattacharjee A; Pharmacology and Toxicology, University at Buffalo - The State University of New York, Buffalo, NY 14214, USA; Program for Neuroscience, University at Buffalo - The State University of New York, Buffalo, NY 14214, USA. Electronic address: ab68@buffalo.edu.
Cell Rep ; 21(4): 926-933, 2017 Oct 24.
Article em En | MEDLINE | ID: mdl-29069600
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canais de Potássio / Mutação de Sentido Incorreto / Epilepsia Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Child, preschool / Female / Humans / Male Idioma: En Revista: Cell Rep Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canais de Potássio / Mutação de Sentido Incorreto / Epilepsia Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Child, preschool / Female / Humans / Male Idioma: En Revista: Cell Rep Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos