Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL. - Carbonell E; Stenton SL; Ganesh VS; Ma J; VanNoy GE; Pais L; Gaitanis JN; O'Leary MC; Rehm HL; O'Donnell-Luria A (HGG advances, 2025)