Genes4Epilepsy : An epilepsy gene resource

Abstract excerpt

OBJECTIVE: "How many epilepsy genes are there?" is a frequently asked question. We sought to (1) provide a curated list of genes that cause monogenic epilepsies, and (2) compare and contrast epilepsy gene panels from multiple sources. METHODS: We compared genes included on the epilepsy panels (as of July 29, 2022) of four clinical diagnostic providers: Invitae, GeneDx, Fulgent Genetics, and Blueprint Genetics;...

Topics

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

• Share to Epilepsy research and treatment
• Share to Genomics and Rare Diseases
• Share to Hedgehog Signaling Pathway Studies