Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.L120delFs
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SLC35A2

NM_005660.3:p.L120delFs

Associated Papers

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

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

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."