{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:09:30Z","timestamp":1753891770406,"version":"3.41.2"},"reference-count":20,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,7,6]],"date-time":"2023-07-06T00:00:00Z","timestamp":1688601600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p><jats:italic>PACHTR1<\/jats:italic> is expressed in cardiovascular and neurological tissues. In the brain, it has a role in pre- and post-natal maturation. Previously reported <jats:italic>PHACTR1<\/jats:italic>-mutated patients showed early-onset epilepsy and intellectual disability. We describe two unreported cases with <jats:italic>de novo<\/jats:italic> pathogenic variants in <jats:italic>PHACTR1<\/jats:italic> and their clinical pictures, compared with those of cases already reported in the literature. In line with previous reports, the two patients presented early-onset developmental and epileptic encephalopathy. In addition, one patient developed a speech disorder and a progressive movement disorder characterized by hypertonus, hypo-bradykinesia, hypomimia, ataxic gait, and retropulsion. She was treated with levodopa without any clinical improvement. Pathogenic variants in <jats:italic>PHACTR1<\/jats:italic> may result in a cardiological or neurological phenotype. Severe developmental delay, intellectual disability, and early-onset developmental and epileptic encephalopathy are the main features of <jats:italic>PHACTR1<\/jats:italic>-mutated patients with neurological involvement. Movement and speech disorders have never previously been described and could be new features of the neurological phenotype.<\/jats:p>","DOI":"10.3389\/fneur.2023.1181015","type":"journal-article","created":{"date-parts":[[2023,7,6]],"date-time":"2023-07-06T20:49:28Z","timestamp":1688676568000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 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