{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T17:42:03Z","timestamp":1780422123974,"version":"3.54.1"},"reference-count":9,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,6,28]],"date-time":"2023-06-28T00:00:00Z","timestamp":1687910400000},"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":["Epileptic Disorders"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the <jats:italic>ATP1A3<\/jats:italic> gene have been associated with several syndromes, including rapid\u2010onset dystonia\u2010parkinsonism, alternating hemiplegia of childhood, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss. In this clinical commentary, we report a 2\u2010year\u2010old female patient with de novo pathogenic variant in the <jats:italic>ATP1A3<\/jats:italic> gene associated with an early\u2010onset form of epilepsy with eyelid myoclonia. The patient had frequent eyelid myoclonia occurring 20\u201330 times per day, without loss of awareness or other motor manifestations. EEG showed generalized polyspikes and spike\u2010and\u2010wave complexes maximal in the bifrontal regions, with prominent eye closure sensitivity. A sequencing\u2010based epilepsy gene panel revealed a de novo pathogenic heterozygous variant in <jats:italic>ATP1A3<\/jats:italic>. The patient showed some response to flunarizine and clonazepam. This case highlights the importance of considering <jats:italic>ATP1A3<\/jats:italic> mutations in the differential diagnosis of early\u2010onset epilepsy with eyelid myoclonia and the potential benefit of flunarizine in improving language and coordination development in patients with <jats:italic>ATP1A3<\/jats:italic>\u2010related disorders.<\/jats:p>","DOI":"10.1002\/epd2.20086","type":"journal-article","created":{"date-parts":[[2023,6,9]],"date-time":"2023-06-09T11:24:04Z","timestamp":1686309844000},"page":"545-548","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Epilepsy with eyelid myoclonia in the setting of de novo pathogenic variant in <i>ATP1A3<\/i>"],"prefix":"10.1002","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0582-0852","authenticated-orcid":false,"given":"Maksim","family":"Parfyonov","sequence":"first","affiliation":[{"name":"Epilepsy Center, Neurological Institute Cleveland Clinic  Cleveland Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alina","family":"Ivaniuk","sequence":"additional","affiliation":[{"name":"Epilepsy Center, Neurological Institute Cleveland Clinic  Cleveland Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumit","family":"Parikh","sequence":"additional","affiliation":[{"name":"Neurometabolism &amp; Neurogenetics Cleveland Clinic  Cleveland Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elia","family":"Pestana\u2010Knight","sequence":"additional","affiliation":[{"name":"Epilepsy Center, Neurological Institute Cleveland Clinic  Cleveland Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,6,28]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2014.09.015"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2020.01.041"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2020.11.018"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2022.106886"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.21307\/joepi\u20102015\u20100033"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62505"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22115609"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.637890"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14666"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epd2.20086","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:07:24Z","timestamp":1710778044000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/epd2.20086"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,28]]},"references-count":9,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["10.1002\/epd2.20086"],"URL":"https:\/\/doi.org\/10.1002\/epd2.20086","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,28]]},"assertion":[{"value":"2023-03-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}