Associated Papers
SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights.
Risso B et al.
International Journal of Molecular Sciences, 2025
41373710 (PubMed )
Supplement: ijms-26-11560-s001.zip › ijms-4001327-supplementary.xlsx › Foglio1
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation.
Jáñez Pedrayes A et al.
Cellular and Molecular Life Sciences : Cmls, 2025
Somatic variants in SLC35A2 leading to defects in N-glycosylation in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE).
Liu X et al.
Acta Neuropathologica, 2025
Genetic testing in children enrolled in epilepsy surgery program. A real-life study.
Straka B et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2023
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.
Barba C et al.
Neurology, 2023
Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.
Straka B et al.
Neurology. Genetics, 2022
Select a paper to view details