GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.


OBJECTIVE To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. METHODS We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients with de novo missense and splice site GNAO1 mutations, detected by next-generation sequencing techniques… (More)
DOI: 10.1212/NXG.0000000000000143


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