{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T03:12:47Z","timestamp":1793157167324,"version":"4.5.0"},"reference-count":55,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2023,7,17]],"date-time":"2023-07-17T00:00:00Z","timestamp":1689552000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Most episodic ataxias (EA) are autosomal dominantly inherited and characterized by recurrent attacks of ataxia and other paroxysmal and non\u2010paroxysmal features. EA is often caused by pathogenic variants in the <jats:italic>CACNA1A, KCNA1<\/jats:italic>, <jats:italic>PDHA1<\/jats:italic>, and <jats:italic>SLC1A3<\/jats:italic> genes, listed as paroxysmal movement disorders (PxMD) by the MDS Task Force on the Nomenclature of Genetic Movement Disorders. Little is known about the genotype\u2013phenotype correlation of the different genetic EA forms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed a systematic review of the literature to identify individuals affected by an episodic movement disorder harboring pathogenic variants in one of the four genes. We applied the standardized MDSGene literature search and data extraction protocol to summarize the clinical and genetic features. All data are available via the MDSGene protocol and platform on the MDSGene website (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"https:\/\/www.mdsgene.org\/\">https:\/\/www.mdsgene.org\/<\/jats:ext-link>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Information on 717 patients (<jats:italic>CACNA1A<\/jats:italic>: 491, <jats:italic>KCNA1<\/jats:italic>: 125, <jats:italic>PDHA1<\/jats:italic>: 90, and <jats:italic>SLC1A3<\/jats:italic>: 11) carrying 287 different pathogenic variants from 229 papers was identified and summarized. We show the profound phenotypic variability and overlap leading to the absence of frank genotype\u2013phenotype correlation aside from a few key \u2018red flags\u2019.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Given this overlap, a broad approach to genetic testing using a panel or whole exome or genome approach is most practical in most circumstances.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.15969","type":"journal-article","created":{"date-parts":[[2023,7,9]],"date-time":"2023-07-09T16:38:52Z","timestamp":1688920732000},"page":"3377-3393","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["<scp>Genotype\u2013phenotype<\/scp> relations for episodic ataxia genes: <scp>MDSGene<\/scp> systematic review"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1814-8834","authenticated-orcid":false,"given":"Diana Angelika","family":"Olszewska","sequence":"first","affiliation":[{"name":"Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Division of Neurology University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aakash","family":"Shetty","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medicine and Dentistry University of Alberta  Edmonton Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajasumi","family":"Rajalingam","sequence":"additional","affiliation":[{"name":"Edmond J. 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