Copy number variation plays an important role in clinical epilepsy

2014172 citationsJournal Article

Authors

Heather E. Olson · Boston Children's Hospital

Yiping Shen · Harvard University

Jennifer Avallone · Harvard University

Beth Rosen Sheidley · Harvard University

Rebecca Pinsky · Boston Children's Hospital

Ann M. Bergin · Harvard University

Gerard T. Berry ·

Abstract

Copy number abnormalities play an important role in patients with epilepsy. Because the diagnostic yield of CMA for epilepsy patients is similar to the yield in autism spectrum disorders and in prenatal diagnosis, for which published guidelines recommend testing with CMA, we recommend the implementation of CMA in the evaluation of unexplained epilepsy.

Topics & Keywords

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Annals of Neurology

Volume 75, Issue 6, pp. 943-958

DOI: 10.1002/ana.24178

Field-Weighted Citation Impact: 13.73