Everolimus precision therapy for the <scp>GATOR1</scp>‐related epilepsies: A case series

202326 citationsJournal Articlehybrid Open Access

Authors

Patrick B. Moloney · Royal College of Surgeons in Ireland

Hugh Kearney · Beaumont Hospital

Katherine A. Benson · Royal College of Surgeons in Ireland

Daniel J. Costello · University College Cork

Gianpiero L. Cavalleri · Royal College of Surgeons in Ireland

Kathleen M. Gorman · University College Dublin

Bryan J. Lynch

Abstract

Our study provides the first human data on the potential benefit of everolimus precision therapy for epilepsy caused by DEPDC5 loss-of-function variants. Further studies are needed to support our findings.

Topics & Keywords

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders CRISPR and Genetic Engineering

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: European Journal of Neurology

Volume 30, Issue 10, pp. 3341-3346

DOI: 10.1111/ene.15975

Field-Weighted Citation Impact: 8.16

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