Article
Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa.
Tremor and other hyperkinetic movements (New York, N.Y.) - 1 Jan 2023
Vasconcellos Luiz Felipe, Soares Vinicius Pinheiro, de Ricchezza Lucas Leroux
Abstract excerpt
Background: Cerebral palsy (CP) should not be considered a diagnosis, but rather a syndrome related to several etiologies, including, but not limited to, neurological sequelae of a perinatal brain injury. Case report: 24-years-old man with dystonia and delayed motor and cognitive development had been previously diagnosed with CP. Molecular genetic testing identified a heterozygosity variant in GNAO 1 gene. A...
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