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Moritz Thiel, Katerina Bernardi, Anne Koy, and Darius Ebrahimi-Fakhari have contributed equally to this study. Relevant conflicts of interest/financial disclosures: None.
Pathogenic GNAO1 variants were first associated with severe early-onset epileptic encephalopathy.1 Subsequent patients were reported with a movement disorder–predominant phenotype.2 GNAO1 disorders are thus classified as “developmental and epileptic encephalopathy 17” (OMIM-615473) and “neurodevelopmental disorder with involuntary movements” (OMIM-617493).
Background Patients carrying pathogenic variants in GNAO1 often present with early-onset central hypotonia and global developmental delay, with or without epilepsy. As the disorder progresses, a complex hypertonic and hyperkinetic movement disorder is a common phenotype. A genotype–phenotype correlation has not yet been described and there are no evidence-based therapeutic recommendations.
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