Drug resistant epilepsy driven by RHEB gene variants – Current evidence and a novel report of a paedatric case

Highlights • We describe a new paediatric case with drug resistant focal epilepsy due to FCDIIb caused by a somatic RHEB p.Tyr35Leu variant.• In a comprehensive integrated case and literature review we delineate clinical patterns in RHEB-related mTORopathies.• Both somatic and germline RHEB variants are rare yet represent potentially druggable targets• This report emphasizes the relevance of comprehensive clinical knowledge of RHEB-related mTORopathies for precision epilepsy care.