Aim To evaluate clinical phenotype and molecular findings of 157 cases with GNAO1
pathogenic or likely pathogenic variants delineating the clinical spectrum, course, and …

Abstract In 2016, the Movement Disorder Society Task Force for the Nomenclature of
Genetic Movement Disorders presented a new system for naming genetically determined …

De novo point mutations in GNAO1, gene encoding the major neuronal G protein Gαo, have
recently emerged in patients with pediatric encephalopathy having motor, developmental …

Importance Cerebral palsy is a common neurodevelopmental disorder affecting movement
and posture that often co-occurs with other neurodevelopmental disorders. Individual cases …

Objective GNAO1‐related disorders (OMIM# 615473 and# 617493), caused by variants in
the GNAO1 gene, are characterized by developmental delay or intellectual disability …

The G protein alpha subunit o (Gαo) is one of the most abundant proteins in the nervous
system, and pathogenic mutations in its gene (GNAO1) cause movement disorder. However …

Background Most reported patients carrying GNAO1 mutations showed a severe phenotype
characterized by early‐onset epileptic encephalopathy and/or chorea. Objective The aim …

Heterozygous mutations in KMT2B are associated with an early-onset, progressive and
often complex dystonia (DYT28). Key characteristics of typical disease include focal motor …

Dominant GNAO1 mutations cause an emerging group of childhood-onset neurological
disorders characterized by developmental delay, intellectual disability, movement disorders …

GNAO1 encephalopathy characterized by a wide spectrum of neurological deficiencies in
pediatric patients originates from de novo heterozygous mutations in the gene encoding …