{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T12:41:51Z","timestamp":1781613711687,"version":"3.54.5"},"reference-count":24,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2025,8,7]],"date-time":"2025-08-07T00:00:00Z","timestamp":1754524800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Biallelic loss\u2010of\u2010function variants in\n                      <jats:italic>PI4K2A<\/jats:italic>\n                      have been associated with a neurodevelopmental disorder characterized by seizures and movement disorders, including orofacial dyskinesia. However, only 4 cases have been reported. Orolingual dyskinesia\u2014defined as involuntary movements of the mouth and tongue\u2014is observed in various pediatric neurodevelopmental disorders (NDD) but remains under\u2010recognized.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      The aims were to highlight orolingual dyskinesia as a core feature of\n                      <jats:italic>PI4K2A<\/jats:italic>\n                      \u2010related disorder (\n                      <jats:italic>PI4K2A<\/jats:italic>\n                      \u2010RD) and explore its presence across other NDDs.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We described two new families with\n                      <jats:italic>PI4K2A<\/jats:italic>\n                      \u2010RD and reviewed the clinical features of four previously reported cases. A focused literature search was also conducted to identify other neurogenetic conditions associated with orolingual dyskinesia.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      All individuals with\n                      <jats:italic>PI4K2A<\/jats:italic>\n                      deficiency exhibited orolingual dyskinesia, along with developmental delay, movement abnormalities, and variable seizures. The literature review confirmed frequent underreporting of this feature in NDDs.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Orolingual dyskinesia is a relevant but under\u2010recognized clinical sign in\n                      <jats:italic>PI4K2A<\/jats:italic>\n                      \u2010RD and other neurogenetic conditions, with potential diagnostic value. \u00a9 2025 The Author(s).\n                      <jats:italic>Movement Disorders<\/jats:italic>\n                      published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.\n                    <\/jats:p>\n                  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Dar\u00edo","family":"Ortigoza\u2010Escobar","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, Pediatric Neurology Department Institut de Recerca Hospital Sant Joan de D\u00e9u Barcelona  Barcelona Spain"},{"name":"U\u2010703 Centre for Biomedical Research on Rare Diseases (CIBER\u2010ER) Instituto de Salud Carlos III  Barcelona Spain"},{"name":"European Reference Network for Rare Neurological Diseases (ERN\u2010RND)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pooja","family":"Rohilla","sequence":"additional","affiliation":[{"name":"Section on Molecular Signal Transduction Eunice Kennedy Shriver, National Institute of Child Health and Human Development, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javeria Raza","family":"Alvi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Institute of Child Health, Children Hospital 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