Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants

PACHTR1 is expressed in cardiovascular and neurological tissues. In the brain, it has a role pre- post-natal maturation. Previously reported PHACTR1 -mutated patients showed early-onset epilepsy intellectual disability. We describe two unreported cases with de novo pathogenic variants their clinical pictures, compared those of already literature. line previous reports, presented developmental epileptic encephalopathy. addition, one patient developed speech disorder progressive movement characterized by hypertonus, hypo-bradykinesia, hypomimia, ataxic gait, retropulsion. She was treated levodopa without any improvement. Pathogenic may result cardiological or phenotype. Severe delay, disability, encephalopathy are main features involvement. Movement disorders have never previously been described could be new