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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-26503721
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Epilepsy / Shab Potassium Channels Type of study: Diagnostic_studies / Prognostic_studies Limits: Animals / Female / Humans Language: En Journal: J Gen Physiol Year: 2015 Document type: Article Country of publication: United States
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Epilepsy / Shab Potassium Channels Type of study: Diagnostic_studies / Prognostic_studies Limits: Animals / Female / Humans Language: En Journal: J Gen Physiol Year: 2015 Document type: Article Country of publication: United States