Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.T241_N242Splc
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GNAO1

NM_020988.3:p.T241_N242Splc

Associated Papers

Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.

Thiel M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2023

Elective and Emergency Deep Brain Stimulation in Refractory Pediatric Monogenetic Movement Disorders Presenting with Dystonia: Current Practice Illustrated by Two Cases.

Garofalo M et al.

Neuropediatrics, 2023

GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey.

JoJo Yang QZ et al.

Epilepsy & Behavior Reports, 2023

36654732 (PubMed )
Supplement: mmc1.xlsx › Draft

Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes.

Sáez González M et al.

Human Mutation, 2023

Treating GNAO1 mutation-related severe movement disorders with oxcarbazepine: a case report.

Ling W et al.

Translational Pediatrics, 2022

Both subthalamic and pallidal deep brain stimulation are effective for GNAO1-associated dystonia: three case reports and a literature review.

Liu Y et al.

Therapeutic Advances in Neurological Disorders, 2022

Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.

Koy A et al.

Journal of the Neurological Sciences, 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."