Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.T191_R198del0
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GNAO1

NM_020988.3:p.T191_R198del0

Associated Papers

Decoding GNAO1 mutations using Caenorhabditis elegans model system: past approaches and future prospectives.

Yadav S et al.

Frontiers in Cellular Neuroscience, 2025

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

JoJo Yang QZ et al.

Epilepsy & Behavior Reports, 2023

36654732 (PubMed )
Supplement: mmc1.xlsx › Draft

Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.

Spagnoli C et al.

International Journal of Molecular Sciences, 2021

33919646 (PubMed )
Supplement: ijms-22-04202-s001.zip › Table_S1.pdf

Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.

Arisaka A et al.

Epilepsy & Behavior Reports, 2021

Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder.

Menke LA et al.

Journal of Child Neurology, 2016

GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.

Marcé-Grau A et al.

Orphanet Journal of Rare Diseases, 2016

Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.

Kulkarni N et al.

Journal of Child Neurology, 2016

In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.

Oliver KL et al.

Neurology. Genetics, 2016

27066588 (PubMed )
Supplement: supp_2.1.e51_table_e-2.xlsx › table_e-2

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

Saitsu H et al.

European Journal of Human Genetics : Ejhg, 2016

Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.

Mastrangelo M

Pediatric Neurology, 2015

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

Nakamura K et al.

American Journal of Human Genetics, 2013

Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.

Talvik I et al.

Child Neurology Open, 0

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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."