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
Neuropathology and epilepsy surgery - 2024 update.
Blümcke I
Free Neuropathology, 2024
D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery.
Aledo-Serrano Á et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 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
SLC35A2-CDG: Novel variant and review.
Quelhas D et al.
Molecular Genetics and Metabolism Reports, 2021
Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE).
Bonduelle T et al.
Acta Neuropathologica Communications, 2021
Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features.
Abuduxikuer K et al.
Frontiers in Genetics, 2021
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Ng BG et al.
Human Mutation, 2019
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