Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.S212delFs
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SLC35A2

NM_005660.3:p.S212delFs

Associated Papers

SLC35A2 somatic variants in drug resistant epilepsy: FCD and MOGHE.

Elziny S et al.

Neurobiology of Disease, 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

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

Bedrosian TA et al.

Epilepsia, 2022

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

Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue.

Miller KE et al.

Neurology. Genetics, 2020

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."