{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T12:41:58Z","timestamp":1781613718028,"version":"3.54.5"},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,12,2]],"date-time":"2024-12-02T00:00:00Z","timestamp":1733097600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p><jats:italic>KCNMA1<\/jats:italic>\u2010linked channelopathy is characterized by neurodevelopmental disorder, epileptic seizures and non\u2010epileptic paroxysmal episodes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To describe the phenotype of paroxysmal non\u2010epileptic episodes related to <jats:italic>KCNMA1<\/jats:italic> pathogenic variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Videos of paroxysmal episodes were reviewed according to a standardized protocol by a group of movement disorders experts.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Fourteen videos were reviewed (6 previously published patients and a new patient). The typical pattern of an episode was (i) facial changes including dyskinetic movements of tongue and jaws (ii) behavioral arrest (iii) loss of postural reflexes that could be associated with focal body stiffness, eventually leading to fall (iv) rapid recovery without post\u2010ictal drowsiness. Attacks were brief, with a high daily frequency, occasionally triggered by emotion, and dramatically improved by psychostimulant therapy in three patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>KCNMA1<\/jats:italic>\u2010related attacks are clearly distinguishable from paroxysmal dyskinesia, cataplexy or episodic ataxia indicating a unique phenomenological entity whose recognition will enhance accurate diagnosis and treatment.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.14289","type":"journal-article","created":{"date-parts":[[2024,12,2]],"date-time":"2024-12-02T06:16:27Z","timestamp":1733120187000},"page":"215-225","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["<scp><i>KCNMA1\u2010Related<\/i><\/scp> Episodes of Behavioral Arrest and Loss of Postural Reflexes: A Critical Reappraisal"],"prefix":"10.1002","volume":"12","author":[{"given":"Emmanuel","family":"Roze","sequence":"first","affiliation":[{"name":"Sorbonne University, INSERM, CNRS, Paris Brain Institute, AP\u2010HP Salp\u00eatri\u00e8re Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2184-626X","authenticated-orcid":false,"given":"Laura","family":"Silveira\u2010Moriyama","sequence":"additional","affiliation":[{"name":"Neurology Department Universidade Estadual de Campinas (UNICAMP)  Campinas Brazil"},{"name":"Teaching Unit UCL Queen Square Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Smaranda","family":"Leu\u2010Semenescu","sequence":"additional","affiliation":[{"name":"Sleep Disorders Clinic, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital, APHP\u2010Sorbonne University, National Reference Center for Orphan Diseases, Narcolepsy, Idiopathic Hypersomnia, and Kleine\u2010Levin Syndrome; Paris Brain Institute (ICM), Inserm, CNRS  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Villeneuve","sequence":"additional","affiliation":[{"name":"Assistance publique\u2010H\u00f4pitaux de Marseille, Reference Centre for Rare Epilepsies (member of the ERN network EPICARE)  Marseille France"},{"name":"Pediatric Neurology Department Assistance publique\u2010H\u00f4pitaux de Marseille  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9r\u00e9nice","family":"Lecardonnel","sequence":"additional","affiliation":[{"name":"Service de Neurop\u00e9diatrie, CHU Montpellier  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010C\u00e9line","family":"Fran\u00e7ois\u2010Heude","sequence":"additional","affiliation":[{"name":"Service de Neurop\u00e9diatrie, CHU Montpellier  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Meyer","sequence":"additional","affiliation":[{"name":"Service de Neurop\u00e9diatrie, CHU Montpellier  Montpellier France"},{"name":"Phymedexp, Universit\u00e9 de Montpellier, Inserm, CNRS  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7171-1406","authenticated-orcid":false,"given":"Claudio M.","family":"de Gusmao","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department University of S\u00e3o Paulo  Sao Paulo Brazil"},{"name":"Boston Children's Hospital  Boston USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8180-4857","authenticated-orcid":false,"given":"Agathe","family":"Roubertie","sequence":"additional","affiliation":[{"name":"Service de Neurop\u00e9diatrie, CHU Montpellier  Montpellier France"},{"name":"Institute for Neurosciences of Montpellier, 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