Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Valentina CeticaTiziana PisanoGaëtan LescaDana MarafiLaura LicchettaFlorence RiccardiDavide MeiHon-Yin B ChungCarolina AlvarezMeena BalasubramanianDaniel H LowensteinMilda EndzinienėMaha AlotaibiNathalie VilleneuveJulia JacobsBertrand IsidorRoberta SolazziNicolette S den HollanderDragan MarjanovicChristelle Rougeot-JungJulien JungMarion Lesieur-SebellinAndrea AccogliVincenzo SalpietroNebal W SaadiEleni PanagiotakakiThomas FoiadelliSylvia RedonMeng-Han TsaiFrancesca BisulliTrine B HammerJames R LupskiElena ParriniRenzo Guerrininull nullPublished in: Epilepsia (2024)
This study suggests that pathogenic YWHAG variants cause a wide range of clinical presentations with variable severity, ranging from mild developmental delay to DEE. In this allelic series, a genotype-phenotype correlation begins to emerge, potentially providing prognostic information for clinical management and genetic counseling.