Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.S212fs
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SLC35A2

NM_005660.3:p.S212fs

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

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

Detection of brain somatic variation in epilepsy-associated developmental lesions.

Bedrosian TA et al.

Epilepsia, 2022

Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients.

Kim S et al.

Annals of Neurology, 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

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.

Baldassari S et al.

Acta Neuropathologica, 2019

Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.

Winawer MR et al.

Annals of Neurology, 2018

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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."