Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Athina VerveriSara ZagagliaLara MenziesJúlia BaptistaRichard C CaswellStephanie BaulacSian EllardSally LynchGenomics England Research ConsortiumThomas S JacquesManinder Singh ChawlaMartin HeierMari Ann KulsethInger-Lise MeroAnne Katrine VåtevikIchraf KraouaHanene Ben RhoumaThouraya Ben YounesZouhour MiladiIlhem Ben Youssef TurkiWendy D JonesEmma ClementChristin EltzeKshitij MankadAshirwad MerveJennifer ParkerBethan HoskinsRonit PresslerSniya SudhakarCatherine DeVileTessa HomfrayMarios KaliakatsosPrab Prabhakar PonnudasRobert RobinsonSara Margrete Bøen KeimImen HabibiAlexandre ReymondSanjay M SisodiyaJane A HurstPublished in: Human molecular genetics (2022)
The clinical, histopathological and genetic evidence supports a causal role for the homozygous DEPDC5 variants, expanding our understanding of the biology of this gene.