{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T00:35:30Z","timestamp":1787790930117,"version":"build-2784847793"},"reference-count":27,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,3,4]],"date-time":"2024-03-04T00:00:00Z","timestamp":1709510400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100014865","name":"Fondation Maladies Rares","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014865","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Although the group of paroxysmal kinesigenic dyskinesia (PKD) genes is expanding, the molecular cause remains elusive in more than 50% of cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>The aim is to identify the missing genetic causes of PKD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Phenotypic characterization, whole exome sequencing and association test were performed among 53 PKD cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified four causative variants in <jats:italic>KCNJ10<\/jats:italic>, already associated with EAST syndrome (epilepsy, cerebellar ataxia, sensorineural hearing impairment and renal tubulopathy). Homozygous p.(Ile209Thr) variant was found in two brothers from a single autosomal recessive PKD family, whereas heterozygous p.(Cys294Tyr) and p.(Thr178Ile) variants were found in six patients from two autosomal dominant PKD families. Heterozygous p.(Arg180His) variant was identified in one additional sporadic PKD case. Compared to the Genome Aggregation Database v2.1.1, our PKD cohort was significantly enriched in both rare heterozygous (odds ratio,\u200921.6; <jats:italic>P<\/jats:italic>\u2009=\u20099.7\u2009\u00d7\u200910<jats:sup>\u22128<\/jats:sup>) and rare homozygous (odds ratio,\u20092047; <jats:italic>P<\/jats:italic>\u2009=\u20091.65\u2009\u00d7\u200910<jats:sup>\u22126<\/jats:sup>) missense variants in <jats:italic>KCNJ10<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We demonstrated that both rare monoallelic and biallelic missense variants in <jats:italic>KCNJ10<\/jats:italic> are associated with PKD. \u00a9 2024 The Authors. <jats:italic>Movement Disorders<\/jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.29752","type":"journal-article","created":{"date-parts":[[2024,3,4]],"date-time":"2024-03-04T05:21:38Z","timestamp":1709529698000},"page":"897-905","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Rare Missense Variants in <scp><i>KCNJ10<\/i><\/scp> Are Associated with Paroxysmal Kinesigenic Dyskinesia"],"prefix":"10.1002","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4427-5765","authenticated-orcid":false,"given":"Thomas","family":"Wirth","sequence":"first","affiliation":[{"name":"Service de Neurologie H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"},{"name":"D\u00e9partement de M\u00e9decine Translationnelle et Neurog\u00e9n\u00e9tique Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire, INSERM\u2010U964\/CNRS\u2010UMR7104\/Universit\u00e9 de Strasbourg  Illkirch\u2010Graffenstaden 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