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De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

  • Krishna R. Veeramah
  • , Janelle E. O'Brien
  • , Miriam H. Meisler
  • , Xiaoyang Cheng
  • , Sulayman D. Dib-Hajj
  • , Stephen G. Waxman
  • , Dinesh Talwar
  • , Santhosh Girirajan
  • , Evan E. Eichler
  • , Linda L. Restifo
  • , Robert P. Erickson
  • , Michael F. Hammer

Research output: Contribution to journal › Article › peer-review

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Biochemistry, Genetics and Molecular Biology