Associated Papers
Deciphering a mechanistic basis for the pathological effect of the GNAO1 E246K variant in neurodevelopmental disorder.
Sadiya I et al.
Bba Advances, 2026
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort.
Akter H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Molecular annotation of G protein variants in a neurological disorder.
Knight KM et al.
Cell Reports, 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
The NESHIE and CP Genetics Resource (NCGR): A database of genes and variants reported in neonatal encephalopathy with suspected hypoxic ischemic encephalopathy (NESHIE) and consequential cerebral palsy (CP).
Holborn MA et al.
Genomics, 2022
36270382 (PubMed )
Supplement: mmc6.xlsx › New_2
Treating GNAO1 mutation-related severe movement disorders with oxcarbazepine: a case report.
Ling W et al.
Translational Pediatrics, 2022
Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants.
Al Masseri Z et al.
Molecular Genetics and Metabolism Reports, 2022
Genetic modeling of GNAO1 disorder delineates mechanisms of Gαo dysfunction.
Wang D et al.
Human Molecular Genetics, 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
Insights From Genetic Studies of Cerebral Palsy.
Lewis SA et al.
Frontiers in Neurology, 2020
33551980 (PubMed )
Supplement: Table_1.XLSX › variants
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review.
Schirinzi T et al.
Parkinsonism & Related Disorders, 2019
GNAO1 Mutation-Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation.
Honey CM et al.
Journal of Child Neurology, 2018
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.
Danti FR et al.
Neurology. Genetics, 2017
Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder.
Menke LA et al.
Journal of Child Neurology, 2016
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