Focal lesions of the human neocortex often cause drug-resistant epilepsy. Yet, surgical
resection of the epileptogenic region has been proven as a successful strategy to control …

Objective Although genetic causes of drug-resistant focal epilepsy and selected focal
malformations of cortical development (MCD) have been described, a limited number of …

Background and Objectives Mild malformation of cortical development with oligodendroglial
hyperplasia and epilepsy (MOGHE) is a newly described rare entity of drug-resistant …

Objective Recently, we developed a first artificial intelligence (AI)‐based digital pathology
classifier for focal cortical dysplasia (FCD) as defined by the ILAE classification. Herein, we …

Objective To develop a multiparametric machine‐learning (ML) framework using high‐
resolution 3 dimensional (3D) magnetic resonance (MR) fingerprinting (MRF) data for …

Introduction Infantile epileptic spasms syndrome (IESS) is a common developmental and
epileptic encephalopathy with poor long-term outcomes. A substantial proportion of patients …

Epilepsy is one of the most common neurological diseases globally. We conducted a
systematic review of the genetic markers and personalized treatment strategies used in the …

Brain somatic variants in SLC35A2, an intracellular UDP-galactose transporter, are
commonly identified mutations associated with drug-resistant neocortical epilepsy and …

Lesional epilepsy is a common and severe disease commonly associated with
malformations of cortical development, including focal cortical dysplasia and …

SLC35A2 encodes a UDP-galactose transporter essential for glycosylation of proteins and
galactosylation of lipids and glycosaminoglycans. Germline genetic SLC35A2 variants have …