Lessons learned from 40 novel PIGA patients and a review of the literature.
Carolina AlvarezAlexej KnausManuela PendziwiatAlexandra AfenjarTahsin Stefan BarakatFriedrich BoschBert CallewaertPatrick CalvasBerten CeulemansNicolas ChassaingChristel DepienneMilda EndzinieneCarlos R FerreiraCarolina Fischinger Moura de SouzaCécile FreihuberShiva GanesanSvetlana GataullinaRenzo GuerriniAnne-Marie GuerrotLars HansenAleksandra Jezela-StanekCaroline KarsentyAnneke KievitR Frank KooyChristian M KorffJohanne Kragh HansenMartin LarsenValérie LayetGaëtan LescaKim L McBrideMarije MeuwissenCyril MignotMartino MontomoliHannah MooreSophie NaudionCaroline NavaMarie-Christine NouguesElena ParriniMatthew PastoreJurgen H SchelhaasSteven SkinnerKrzysztoł SzczałubaAshley ThomasMads ThomassenLisbeth TranebjaergMarjon van SlegtenhorstLynne A WolfeDennis LalElena GardellaLilian Bomme OusagerTobias BrüngerIngo HelbigPeter KrawitzRikke Steensjerre MollerPublished in: Epilepsia (2020)
Our comprehensive analysis of the largest cohort of published and novel PIGA patients broadens the spectrum of PIGA-CDG. Our genotype-phenotype correlation facilitates the estimation on pathogenicity of variants with unknown clinical significance and prognosis for individuals with pathogenic variants in PIGA.