{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T19:10:57Z","timestamp":1770491457471,"version":"3.49.0"},"reference-count":137,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2020,9,5]],"date-time":"2020-09-05T00:00:00Z","timestamp":1599264000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The term Episodic Ataxias (EA) was originally used for a few autosomal dominant diseases, characterized by attacks of cerebellar dysfunction of variable duration and frequency, often accompanied by other ictal and interictal signs. The original group subsequently grew to include other very rare EAs, frequently reported in single families, for some of which no responsible gene was found. The clinical spectrum of these diseases has been enormously amplified over time. In addition, episodes of ataxia have been described as phenotypic variants in the context of several different disorders. The whole group is somewhat confused, since a strong evidence linking the mutation to a given phenotype has not always been established. In this review we will collect and examine all instances of ataxia episodes reported so far, emphasizing those for which the pathophysiology and the clinical spectrum is best defined.<\/jats:p>","DOI":"10.3390\/ijms21186472","type":"journal-article","created":{"date-parts":[[2020,9,6]],"date-time":"2020-09-06T23:12:49Z","timestamp":1599433969000},"page":"6472","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Episodic Ataxias: Faux or Real?"],"prefix":"10.3390","volume":"21","author":[{"given":"Paola","family":"Giunti","sequence":"first","affiliation":[{"name":"Laboratory of Neurogenetics, Department of Molecular Neuroscience, UCL Institute of Neurology, London WC2N 5DU, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1656-5543","authenticated-orcid":false,"given":"Elide","family":"Mantuano","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, Institute of Translational Pharmacology, National Research Council of Italy, 00133 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8671-7958","authenticated-orcid":false,"given":"Marina","family":"Frontali","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, Institute of Translational Pharmacology, National Research Council of Italy, 00133 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,9,5]]},"reference":[{"key":"ref_1","first-page":"317","article-title":"New insights into the pathogenesis and therapeutics of episodic ataxia type 1","volume":"9","author":"Hasan","year":"2015","journal-title":"Front. 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