Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R
YA Larasati, GP Solis, A Koval, ST Griffiths… - Cells, 2023 - mdpi.com
De novo mutations in GNAO1, the gene encoding the major neuronal G protein Gαo, cause
a spectrum of pediatric encephalopathies with seizures, motor dysfunction, and …
a spectrum of pediatric encephalopathies with seizures, motor dysfunction, and …
[HTML][HTML] GNAO1-Related Disorder
L Briere, M Thiel, DA Sweetser, A Koy, E Axeen - 2023 - europepmc.org
GNAO1-related disorder encompasses a broad phenotypic continuum that includes
hyperkinetic movement disorders and/or epilepsy and is typically associated with …
hyperkinetic movement disorders and/or epilepsy and is typically associated with …
Ric8 proteins as the neomorphic partners of G alpha o in GNAO1 encephalopathies
GP Solis, A Koval, J Valnohova, M Savitsky… - bioRxiv, 2023 - biorxiv.org
GNAO1 mutated in pediatric encephalopathies encodes the major neuronal G-protein G
alpha o. Of> 40 pathogenic mutations, most are single amino acid substitutions spreading …
alpha o. Of> 40 pathogenic mutations, most are single amino acid substitutions spreading …
GNAO1 Mutations Affecting the N‐Terminal α‐Helix of Gαo Lead to Parkinsonism
GP Solis, YA Larasati, M Thiel, A Koval… - Movement …, 2024 - Wiley Online Library
Background Patients carrying pathogenic variants in GNAO1 present a phenotypic spectrum
ranging from severe early‐onset epileptic encephalopathy and developmental delay to mild …
ranging from severe early‐onset epileptic encephalopathy and developmental delay to mild …
[HTML][HTML] Gln52 mutations in GNAO1-related disorders and personalized drug discovery
VL Katanaev - Epilepsy & Behavior Reports, 2023 - ncbi.nlm.nih.gov
[9] Di Rocco M, Galosi S, Lanza E, Tosato F, Caprini D, Folli V, et al. Caenorhabditis elegans
provides an efficient drug screening platform for GNAO1-related disorders and highlights the …
provides an efficient drug screening platform for GNAO1-related disorders and highlights the …
[PDF][PDF] Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R. Cells 2023, 12, 2469
YA Larasati, GP Solis, A Koval, ST Griffiths… - 2023 - researchgate.net
De novo mutations in GNAO1, the gene encoding the major neuronal G protein Gαo, cause
a spectrum of pediatric encephalopathies with seizures, motor dysfunction, and …
a spectrum of pediatric encephalopathies with seizures, motor dysfunction, and …
[PDF][PDF] Zinc for GNAO1 encephalopathy: preclinical profiling and a clinical case
YA Larasati, M Thiel, A Koval, DN Silachev, A Koy… - 2024 - researchgate.net
De novo mutations in GNAO1–the gene encoding the major neuronal G-protein Gαo–cause
pediatric encephalopathies largely refractory to available therapies. Zn2+ emerged to …
pediatric encephalopathies largely refractory to available therapies. Zn2+ emerged to …
Zinc for GNAO1 encephalopathy: preclinical profiling and a clinical case
De novo mutations in GNAO1–the gene encoding the major neuronal G-protein Gαo–cause
pediatric encephalopathies largely refractory to available therapies. Zn 2+ emerged to …
pediatric encephalopathies largely refractory to available therapies. Zn 2+ emerged to …
[HTML][HTML] GNAO1-Related Disorder Synonyms: GNAO1-Associated Disorder, GNAO1-Associated Epileptic Encephalopathy and Movement Disorder
L Briere, M Thiel, DA Sweetser, A Koy, E Axeen - europepmc.org
GNAO1-related disorder encompasses a broad phenotypic continuum that includes
hyperkinetic movement disorders and/or epilepsy and is typically associated with …
hyperkinetic movement disorders and/or epilepsy and is typically associated with …
[PDF][PDF] Personalized Drug Discoveries for Patients with GNAO1 Encephalopathies
YA LARASATI - access.archive-ouverte.unige.ch
SUMMARY GNAO1-related neurodevelopmental disorders are caused by mutations in the
GNAO1 gene encoding the major neuronal G protein, Gαo. GNAO1 encephalopathies …
GNAO1 gene encoding the major neuronal G protein, Gαo. GNAO1 encephalopathies …