Pediatric Neurology Briefs (Sep 2016)

Genetic Testing Requires NGS and Sanger Methodologies

  • Lawrence J. Jennings,
  • Dawn Kirschmann

DOI
https://doi.org/10.15844/pedneurbriefs-30-9-1
Journal volume & issue
Vol. 30, no. 9

Abstract

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Investigators from the EuroEPINOMICS rare epilepsy syndromes Dravet working group performed whole-exome sequencing on 31 trios that had been reported negative for SCN1A mutations by Sanger sequencing.

Keywords