Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.
Carmen BarbaIngmar BlumckeMelodie R WinawerTill S HartliebHoon-Chul KangLaura GrisottoMathilde ChipauxChristian G BienBarbora HeřmanovskáBrenda E PorterHart G W LidovValentina CeticaFriedrich G WoermannJavier A Lopez-RiveraPeter D CanollIrina MaderLudovico D'IncertiSara BaldassariEdward YangAhmed GaballaHannes VogelBarbora BenovaLetizia MacconiTilman PolsterGerald A GrantLenka KrskováHui Jin ShinAra KoPeter B CrinoPavel KrsekJeong Ho LeeDennis LalStephanie BaulacAnnapurna PoduriRenzo GuerriniPublished in: Neurology (2022)
gene variants are associated with two main clinical phenotypes, EE and DR-FE, and a histopathological diagnosis of MOGHE. Additional studies will be needed to delineate any possible correlation between specific genetic variants, mutational load in the epileptogenic tissue and surgical outcomes.