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De novo KCNB1 mutations in epileptic encephalopathy

Academic Article
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  • Identity
  • Additional Document Info
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Overview

authors

  • Torkamani, Ali
  • Bersell, K.
  • Jorge, B. S.
  • Bjork Jr., R. L.
  • Friedman, J. R.
  • Bloss, C. S.
  • Cohen, J.
  • Gupta, S.
  • Naidu, S.
  • Vanoye, C. G.
  • George Jr., A. L.
  • Kearney, J. A.

publication date

  • October 2014

journal

  • Annals of Neurology  Journal

subject areas

  • Animals
  • Biotinylation
  • CHO Cells
  • Child
  • Child, Preschool
  • Cricetulus
  • Developmental Disabilities
  • Epilepsy
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Membrane Potentials
  • Mutation, Missense
  • Patch-Clamp Techniques
  • Phenotype
  • Shab Potassium Channels
  • Transfection
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Identity

PubMed Central ID

  • PMC4192091

International Standard Serial Number (ISSN)

  • 0364-5134

Digital Object Identifier (DOI)

  • 10.1002/ana.24263

PubMed ID

  • 25164438
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Additional Document Info

start page

  • 529

end page

  • 540

volume

  • 76

issue

  • 4

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