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, Carmen
Writing – Original Draft Preparation
;
Grisotto, Laura
Formal 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.
2023
100
e528
e542
Barba, Carmen; Blumcke, Ingmar; Winawer, Melodie R; Hartlieb, Till; Kang, Hoon-Chul; Grisotto, Laura; Chipaux, Mathilde; Bien, Christian G; Heřmanovsk...espandi
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1287350
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