Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.

Carmen BarbaIngmar BlumckeMelodie R WinawerTill 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 Guerrini

Published 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.

Keyphrases

copy number
genome wide
dna methylation
white matter
genome wide identification
resting state
gene expression
cerebral ischemia
subarachnoid hemorrhage