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

Session:
#621
Date:
Thursday, Apr 12, 2018 10:00am – 11:30am
Conference:
ACMG 2018
Authors:
Amal Yussuf, Elaine C. Weltmer, Heather Newman, Jing Wang
  • 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
Abstract Poster