2022
DOI: 10.1002/mds.29074
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Highlighting the Dystonic Phenotype Related to GNAO1

Abstract: Background: Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea. Objective: The aim was to characterize the clinical and genetic features of patients with mild GNAO1related phenotype with prominent movement disorders. Methods: We included patients diagnosed with GNAO1-related movement disorders of delayed onset (>2 years). Patients experiencing either severe or profound intellectual disability or early-onset epileptic enc… Show more

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Cited by 41 publications
(30 citation statements)
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“…C215Y also loses RGS19 binding, although this might reflect its nucleotide-state in cells, as it is the only Gαo mutant predicted to have a higher GDP-loading than wild-type. Thus, the C215Y variant, as the T241_N242insPQ (c.724-8G>A) mutant recently characterized by us (31), might fall into a separate category of mild GNAO1 encephalopathy with adolescent or adult-onset, as suggested (32).…”
Section: Discussionmentioning
confidence: 84%
“…C215Y also loses RGS19 binding, although this might reflect its nucleotide-state in cells, as it is the only Gαo mutant predicted to have a higher GDP-loading than wild-type. Thus, the C215Y variant, as the T241_N242insPQ (c.724-8G>A) mutant recently characterized by us (31), might fall into a separate category of mild GNAO1 encephalopathy with adolescent or adult-onset, as suggested (32).…”
Section: Discussionmentioning
confidence: 84%
“…GNAO1 related disorders are inherited in an autosomal dominant pattern, although reports of several affected family members as in the present case, are rare; most of the published literature describe de novo mutation [ 2 3 ]. Missense variant is the most common related GNAO1 genotype, while splicing site variant as documented in this patient, were found in only two previously case reports [ 4 ].…”
Section: Discussionmentioning
confidence: 98%
“…Surgery (i.e. Deep Brain Stimulation[DBS]) has also been attempted, with improvement in most cases [ 3 4 ], including as and intervention to a life-threatening MD emergency [ 7 ].…”
Section: Discussionmentioning
confidence: 99%
“…GNAO1 haploinsufficiency has been evoked as a putative mechanism underlying milder clinical presentations. 1,2 To date, however, the functional consequences of this class of variants have not yet been evaluated.…”
mentioning
confidence: 99%