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Original article
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

Authors

  1. Correspondence to Dr Erik-Jan Kamsteeg, Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, The Netherlands; Erik-Jan.Kamsteeg{at}radboudumc.nl
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Citation

Blanchard MG, Willemsen MH, Walker JB, et al
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

Publication history

  • Received October 7, 2014
  • Revised February 1, 2015
  • Accepted February 5, 2015
  • First published February 27, 2015.
Online issue publication 
April 16, 2015

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