Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

Abstract excerpt

OBJECTIVE: Molecular genetic etiologies in epilepsy have become better understood in recent years, creating important opportunities for precision medicine. Building on these advances, detailed studies of the complexities and outcomes of genetic testing for epilepsy can provide useful insights that inform and refine diagnostic approaches and illuminate the potential for precision medicine in epilepsy. METHODS: We...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Epilepsy research and treatment
• Share to Genomic variations and chromosomal abnormalities
• Share to Genomics and Rare Diseases