{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T05:12:36Z","timestamp":1791349956599,"version":"4.3.1"},"reference-count":54,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,2,9]],"date-time":"2013-02-09T00:00:00Z","timestamp":1360368000000},"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":[[2013,6]]},"abstract":"<jats:p>In the past year, mutations in the <jats:styled-content style=\"fixed-case\"><jats:italic>PRRT2<\/jats:italic><\/jats:styled-content> gene have been identified in patients with paroxysmal kinesigenic dyskinesia and other paroxysmal disorders. We conducted a review of the literature on <jats:styled-content style=\"fixed-case\"><jats:italic>PRRT2<\/jats:italic><\/jats:styled-content> mutation\u2010associated disorders. Our objectives were to describe the wide clinical spectrum associated with <jats:styled-content style=\"fixed-case\"><jats:italic>PRRT2<\/jats:italic><\/jats:styled-content> mutations, and to present the current hypotheses on the underlying pathophysiology. <jats:styled-content style=\"fixed-case\"><jats:italic>PRRT2<\/jats:italic><\/jats:styled-content> mutations are associated with a wide range of clinical syndromes: the various paroxysmal dyskinesias, infantile seizures, paroxysmal torticollis, migraine, hemiplegic migraine, episodic ataxia and even intellectual disability in the homozygous state. The <jats:styled-content style=\"fixed-case\"><jats:italic>PRRT2<\/jats:italic><\/jats:styled-content> protein, through its interaction with <jats:styled-content style=\"fixed-case\">SNAP<\/jats:styled-content>\u201025, could play a role in synaptic regulation in the cortex and the basal ganglia. The pathogenesis may be caused by <jats:styled-content style=\"fixed-case\"><jats:italic>PRRT2<\/jats:italic><\/jats:styled-content> loss of function, which may induce synaptic deregulation and neuronal hyperexcitability. However, this does not explain the phenotypic variability, which is likely modulated by environmental factors, modifier genes or age\u2010dependent expression. The clinical spectrum of <jats:styled-content style=\"fixed-case\"><jats:italic>PRRT2<\/jats:italic><\/jats:styled-content> mutations has expanded among paroxysmal disorders and beyond. Unraveling the molecular pathways linking the genetic defect to its clinical expression will be crucial for the diagnosis and treatment of these disorders.<\/jats:p>","DOI":"10.1111\/ene.12104","type":"journal-article","created":{"date-parts":[[2013,2,9]],"date-time":"2013-02-09T06:18:34Z","timestamp":1360390714000},"page":"872-878","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":99,"title":["<scp><i>PRRT2<\/i><\/scp> mutations and paroxysmal disorders"],"prefix":"10.1111","volume":"20","author":[{"given":"A.","family":"M\u00e9neret","sequence":"first","affiliation":[{"name":"INSERM, UMRS 975, et CNRS 7225 \u2013 CRICM, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re Paris France"},{"name":"D\u00e9partement de Neurologie AP\u2010HP, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re Paris France"},{"name":"Universit\u00e9 Pierre et Marie Curie\u2010Paris\u20106 Paris 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