The SLC35A2 gene, located at chromosome Xp11.23, encodes for a uridine diphosphate (UDP)-galactose transporter. We describe clinical, genetic, neuroimaging, EEG and histopathological findings and assess possible predictors of postoperative seizure and cognitive outcome in 47 patients with refractory epilepsy and brain somatic SLC35A2 gene variants.
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene / Barba, Carmen; Blumcke, Ingmar; Winawer, Melodie R; Hartlieb, Till; Kang, Hoon-Chul; Grisotto, Laura; Chipaux, Mathilde; Bien, Christian G; Heřmanovská, Barbora; Porter, Brenda E; Lidov, Hart G W; Cetica, Valentina; Woermann, Friedrich G; Lopez-Rivera, Javier A; Canoll, Peter D; Mader, Irina; D'Incerti, Ludovico; Baldassari, Sara; Yang, Edward; Gaballa, Ahmed; Vogel, Hannes; Benova, Barbora; Macconi, Letizia; Polster, Tilman; Grant, Gerald A; Krsková, Lenka; Shin, Hui Jin; Ko, Ara; Crino, Peter B; Krsek, Pavel; Lee, Jeong Ho; Lal, Dennis; Baulac, Stéphanie; Poduri, Annapurna; Guerrini, Renzo. - In: NEUROLOGY. - ISSN 0028-3878. - ELETTRONICO. - 100:(2023), pp. e528-e542. [10.1212/WNL.0000000000201471]
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene
Barba, CarmenWriting – Original Draft Preparation
;Grisotto, LauraFormal Analysis
;Guerrini, Renzo
Writing – Review & Editing
2023
Abstract
The SLC35A2 gene, located at chromosome Xp11.23, encodes for a uridine diphosphate (UDP)-galactose transporter. We describe clinical, genetic, neuroimaging, EEG and histopathological findings and assess possible predictors of postoperative seizure and cognitive outcome in 47 patients with refractory epilepsy and brain somatic SLC35A2 gene variants.
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