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A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.
Thiffault, Isabelle; Speca, David J; Austin, Daniel C; Cobb, Melanie M; Eum, Kenneth S; Safina, Nicole P; Grote, Lauren; Farrow, Emily G; Miller, Neil; Soden, Sarah; Kingsmore, Stephen F; Trimmer, James S; Saunders, Carol J; Sack, Jon T.
Afiliação
  • Thiffault I; Center for Pediatric Genomic Medicine, Department of Pathology and Laboratory Medicine, and Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108.
  • Speca DJ; Department of Neurobiology, Physiology and Behavior, Department of Physiology and Membrane Biology, and Department of Anesthesiology and Pain Medicine, University of California, Davis, Davis, CA 95616.
  • Austin DC; Department of Neurobiology, Physiology and Behavior, Department of Physiology and Membrane Biology, and Department of Anesthesiology and Pain Medicine, University of California, Davis, Davis, CA 95616.
  • Cobb MM; Department of Neurobiology, Physiology and Behavior, Department of Physiology and Membrane Biology, and Department of Anesthesiology and Pain Medicine, University of California, Davis, Davis, CA 95616.
  • Eum KS; Department of Neurobiology, Physiology and Behavior, Department of Physiology and Membrane Biology, and Department of Anesthesiology and Pain Medicine, University of California, Davis, Davis, CA 95616.
  • Safina NP; Center for Pediatric Genomic Medicine, Department of Pathology and Laboratory Medicine, and Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108.
  • Grote L; Center for Pediatric Genomic Medicine, Department of Pathology and Laboratory Medicine, and Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108.
  • Farrow EG; Center for Pediatric Genomic Medicine, Department of Pathology and Laboratory Medicine, and Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108.
  • Miller N; Center for Pediatric Genomic Medicine, Department of Pathology and Laboratory Medicine, and Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108.
  • Soden S; Center for Pediatric Genomic Medicine, Department of Pathology and Laboratory Medicine, and Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108 Center for Pediatric Genomic Medicine, Department of Pathology and Laboratory Medicine, and Department of Pediatrics, Children's Merc
  • Kingsmore SF; Center for Pediatric Genomic Medicine, Department of Pathology and Laboratory Medicine, and Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108 Center for Pediatric Genomic Medicine, Department of Pathology and Laboratory Medicine, and Department of Pediatrics, Children's Merc
  • Trimmer JS; Department of Neurobiology, Physiology and Behavior, Department of Physiology and Membrane Biology, and Department of Anesthesiology and Pain Medicine, University of California, Davis, Davis, CA 95616 Department of Neurobiology, Physiology and Behavior, Department of Physiology and Membrane Biology,
  • Saunders CJ; Center for Pediatric Genomic Medicine, Department of Pathology and Laboratory Medicine, and Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108 Center for Pediatric Genomic Medicine, Department of Pathology and Laboratory Medicine, and Department of Pediatrics, Children's Merc
  • Sack JT; Department of Neurobiology, Physiology and Behavior, Department of Physiology and Membrane Biology, and Department of Anesthesiology and Pain Medicine, University of California, Davis, Davis, CA 95616 Department of Neurobiology, Physiology and Behavior, Department of Physiology and Membrane Biology,
J Gen Physiol ; 146(5): 399-410, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26503721
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Epilepsia / Canais de Potássio Shab Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Animals / Female / Humans Idioma: En Revista: J Gen Physiol Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Epilepsia / Canais de Potássio Shab Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Animals / Female / Humans Idioma: En Revista: J Gen Physiol Ano de publicação: 2015 Tipo de documento: Article