Patients 1 and 3 showed atypical presentations. We also found some quite unique presentations of patients with some recurrent GNAO1 variants (p.Glu246Lys and p.Arg209His). [ojrd.biomedcentral.com]

RESULTS: Patients first presented in early childhood (median age of presentation 10 months, range 0-48 months), with a wide range of clinical symptoms ranging from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior [discovery.ucl.ac.uk]

Movement abnormalities were also the major presenting symptoms of patients with GNAO1 variants. The median age at MD onset was 4 years, ranging from 3 months to 8 years, as per published reports (13). [frontiersin.org]

Patients with GNAO1 mutations can present with a severe, progressive hyperkinetic movement disorder with prolonged life-threatening exacerbations, which are refractory to most anti-dystonic medication. [hal-amu.archives-ouvertes.fr]

Results: In the first patient clinically presenting symptoms of DEE the gain-of-function (GOF) (c.607G>A) variant of GNAO1 gene was identified. In this patient MDs (combination of choreathetosis and focal dystonia) co-existed with seizures. [apcz.umk.pl]

• Amyloidosis

  OMIM:601853 Amyloidosis, Hereditary, Transthyretin-Related Ataxia, Spasticity, Hemiparesis, Paraplegia, Cardiomyopathy, Orthostatic hypotension due to auton... [mousephenotype.org]

• Neonatal Hypotonia

  Developmental milestones are also delayed in most patients with GNAO1 variants and the degree of developmental delay varies from neonatal hypotonia to intellectual disability [7,8,9]. [ojrd.biomedcentral.com]

  OMIM:128230 Transient Neonatal Diabetes Mellitus Diabetic ketoacidosis, Hypothyroidism, Transient neonatal diabetes mellitus, Maternal diabetes, M... [mousephenotype.org]

• Stereotypic Hand Movements

  Five patients (5/6, 83.3%) had many different movement symptoms with various onset and progression. The symptoms included stereotyped hands movement, non-epileptic myoclonus, dyskinesia, dystonia and choreoathetosis. [ojrd.biomedcentral.com]

  OMIM:603358 Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome Impaired social interactions, Stereotypical hand wringing, Hyperkinetic movements ORPHA:397933 Lysosomal Acid Lipase Deficiency Leukopenia [mousephenotype.org]

Results: The genetic workup revealed mutations in GNAO1 for all six patients. [hal-amu.archives-ouvertes.fr]

Tetrabenazine and DBS were the most useful treatments for dyskinesia. [discovery.ucl.ac.uk]

Further studies are expected to evaluate other variants in GNAO1 and its related pathway, which will allow us to know more about the disease and its possible treatment. [ojrd.biomedcentral.com]

Among our eight patients with epilepsy, seizures were completely controlled in five by topiramate, vigabatrin, and levetiracetam treatment. [frontiersin.org]

These results, published in the journal Science Advances, give hope of a treatment that could change the lives of patients and their families. [news-medical.net]

Symptoms may be triggered by strong emotions, illness, and purposeful movements.[13883] GNAO1 encephalopathy is caused by mutations in the GNAO1 gene and inheritance is autosomal dominant.[13884][13885] Treatment aims to relieve individual symptoms and [rarediseases.org]

OMIM:255120 Hypoadrenocorticism, Familial Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia OMIM:240200 Sporadic Adult-Onset Ataxia Of Unknown Etiology Parkinsonism, Resting tremor, Shuffling gait, Intention tremor, Akinesia, Ataxia, Abnormal vestib [mousephenotype.org]

Conclusion In complex movement disorders of unsolved etiology clinical WES can rapidly streamline pathogenic genes. We identified two novel GNAO1 mutations. [hal-amu.archives-ouvertes.fr]

The G-protein–cAMP pathway axis is known to play a key role in the pathophysiology of movement disorders. At cellular level, Gαo works as an inhibitor of voltage-gated Ca2+ channels and activator of inward rectifying potassium channels (7). [frontiersin.org]

Funding This study was supported by a research program funded by the Korea Centers for Disease Control and Prevention (Grant No. 2018-ER6901-02). [ojrd.biomedcentral.com]

However, this glutamine is displaced in the event of a pathologic mutation: this structural distance prevents this mechanism to take place'', explains Vladimir Katanaev. [news-medical.net]

Abnormal movements and low muscle tone often prevent patients from activities like holding their heads up, swallowing food without aspirating, and bringing a spoon to their mouth. Watch the 16-Minute Documentary Film [gnao1.org]