Everolimus precision therapy for the GATOR1-related epilepsies: a case series.

Patrick B Moloney,Hugh Kearney,Katherine A Benson,Daniel J Costello,Gianpiero L Cavalleri,Kathleen M Gorman,Bryan J Lynch,Norman Delanty

European journal of neurology（2023）

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摘要

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.

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关键词

DEPDC5, everolimus, GATOR1-related epilepsy, NPRL3, precision therapy

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