Movement Disorders in PURA Syndrome: A Video Case Series
Ana C.S. Crippa,
Eli Paula Bacheladenski,
Danielle C.B. Rodrigues
et al.
Abstract:BackgroundPURA syndrome is a rare genetic disorder characterized by neonatal hypotonia, neurodevelopmental delay, facial dysmorphism, epileptic seizures, complex movement disorders, among other features. Although many pathogenic variants have been reported, there is currently no clear genotype–phenotype association identified.CasesFour patients diagnosed with PURA syndrome, despite carrying different pathogenic variants, presented a similar mixed hyperkinetic movement disorder. The phenomenology presented a co… Show more
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