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
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.
Coleman M et al.
Brain Communications, 2025
39926610 (PubMed )
Supplement: fcaf034_supplementary_data.pdf
Neuropathology and epilepsy surgery - 2024 update.
Blümcke I
Free Neuropathology, 2024
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
CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.
Mayo S et al.
International Journal of Molecular Sciences, 2022
Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE).
Bonduelle T et al.
Acta Neuropathologica Communications, 2021
Precise detection of low-level somatic mutation in resected epilepsy brain tissue.
Sim NS et al.
Acta Neuropathologica, 2019
Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation.
Sim NS et al.
Neurology. Genetics, 2018
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