Session # 621

Genes with therapeutic associations responsible for majority of epilepsy mutations and minority of epilepsy VUS

  • Testing individuals with epilepsy via a targeted panel of genes with therapeutic associations may expedite diagnosis and tailor management
  • Over 70% of epilepsy mutations in our cohort were found in genes with therapeutic associations
  • Starting with a targeted panel of management-associated genes may maximize diagnostic yield and minimize potential for results of uncertain significance

  • Authors: Elaine C. Weltmer; Amal Yussuf; Heather Newman; Jing Wang
  • Conference: American College of Medical Genetics and Genomics (ACMG)
  • Date: Thursday, Apr 12, 2018 10:00am - 11:30am

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