{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T13:20:17Z","timestamp":1788441617328,"version":"build-2803163510"},"reference-count":16,"publisher":"SAGE Publications","issue":"9","license":[{"start":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T00:00:00Z","timestamp":1770595200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2026,10]]},"abstract":"\n The\n PRRT2<\/jats:italic>\n gene located at 16p11 encodes proline-rich transmembrane protein with the heterozygous\n PRRT2<\/jats:italic>\n mutation being commonly reported. The most common variant found was the c.649dup.(Arg217Profs*8). Various case reviews documenting pathogenic\n PRRT2<\/jats:italic>\n variants reported an association with paroxysmal movement disorders, including paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy, paroxysmal kinesigenic dyskinesia associated with infantile convulsions (PKD\/IC), also known as infantile convulsions with choreoathetosis syndrome paroxysmal non-kinesigenic dyskinesia (PNKD), hemiplegic migraine, and exercise-induced dyskinesia. However, more recent reports have also documented mutation associated with a broader clinical picture presenting with congenital microcephaly, severe learning difficulties, and pharmacoresistant encephalopathy. We hereby report a patient who presented with paroxysmal dyskinesia, harbouring the mutation variant on\n PRRT2<\/jats:italic>\n gene. At 5 months of age, our proband presented to emergency because of jerking movements while in a moving car. This was followed by generalized tonic-clonic seizures and kinesigenic posturing. The latter would occur tens of times per day and a specific trigger did not always prevail. The movements responded well to low-dose carbamazepine and genetic studies confirmed a mutated variant of c.649dup.(Arg217Profs*8).\n <\/jats:p>","DOI":"10.1177\/08830738251415469","type":"journal-article","created":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T18:19:53Z","timestamp":1770661193000},"page":"1336-1339","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["A Case of Atypical Presentation of Paroxysmal Movement Disorder, Contributed to\n PRRT2<\/i>\n Gene Variant"],"prefix":"10.1177","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-3661-5687","authenticated-orcid":false,"given":"Mariah","family":"Pace","sequence":"first","affiliation":[{"name":"Mater Dei Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doriette","family":"Soler","sequence":"additional","affiliation":[{"name":"Mater Dei Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,2,9]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2024.04.019"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1008"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12056"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000147298.05983.50"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv317"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.2.224"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.0013-9580.2004.48203.x"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01957732"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.003"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2011.11.001"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1086\/514877"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2022.03.008"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2016.01.010"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.997088"},{"key":"e_1_3_2_16_2","volume-title":"The Spectrum of PRRT2-Associated Disorders: Update on Clinical Features and Pathophysiology. Vol. 12, Frontiers in Neurology","author":"Landolfi A","year":"2021","unstructured":"Landolfi A, Barone P, Erro R. The Spectrum of PRRT2-Associated Disorders: Update on Clinical Features and Pathophysiology. Vol. 12, Frontiers in Neurology. Frontiers Media S.A.; 2021."},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000262029.91552.e0"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251415469","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/08830738251415469","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251415469","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T13:07:34Z","timestamp":1788440854000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738251415469"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,9]]},"references-count":16,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["10.1177\/08830738251415469"],"URL":"https:\/\/doi.org\/10.1177\/08830738251415469","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,9]]}}}