Varaico: Literature-Extracted Genetic Variants

Gene:SGCE
Variant:p.Y115C
Back to variants list

SGCE

NM_003919.3:p.Y115C

Associated Papers

Deep Brain Stimulation in Children and Adolescents with ε-Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life.

Salazar-Villacorta A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

Detection of a new deleterious SGCE gene variant in Moroccan family with inherited myoclonus-dystonia.

Chbel F et al.

Clinical Case Reports, 2022

Favorable response to carbamazepine therapy in genetically proven myoclonus-dystonia child.

Aljabri MF et al.

Italian Journal of Pediatrics, 2021

Population Prevalence of Deleterious SGCE Variants.

LeDoux MS

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2020

Myoclonus-dystonia: significance of large SGCE deletions.

Grünewald A et al.

Human Mutation, 2008

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.

Tezenas du Montcel S et al.

Journal of Medical Genetics, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."