{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T17:49:55Z","timestamp":1788544195588,"version":"build-2803163510"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T00:00:00Z","timestamp":1725494400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on an 11\u2009year old Polish girl who experienced paroxysmal episodes with decreased consciousness, (hemi)plegia, movement disorders, slurred speech, dysphagia, and abnormal eye movements. An extensive etiological work\u2010up (brain MRI, EEG, EMG, NCS, toxic, metabolic, infectious, and auto\u2010immune screening) was not conclusive. A genetic analysis with whole\u2010exome sequencing demonstrated a de novo heterozygous mutation in the <jats:italic>ATP1A3<\/jats:italic> gene (c.2232C&gt;G, p.Asn744Lys). A 48\u2009h video\u2010EEG monitoring that was conducted in our unit later confirmed the absence of ictal discharge during an episode of hemidystonia, demonstrating its non\u2010epileptic etiology. However, several discharges of generalized spike waves, which were facilitated by intermittent photic stimulation and eyelid closure were recorded, of which a few were associated with eyelid myoclonia. Taken together, these findings are characteristic of epilepsy with eyelid myoclonia. The clinical picture of this patient partially fulfills the diagnostic criteria of relapsing encephalopathy with cerebellar ataxia as well as alternating hemiplegia of childhood. It is increasingly recognized that the distinct syndromes described with <jats:italic>ATP1A3<\/jats:italic> mutations are overlapping and could be identified in the same patients. Certain variations in <jats:italic>ATP1A3<\/jats:italic> have been linked to an increased risk of developing generalized epilepsy syndromes. We hereby present the second case in the literature of a patient with epilepsy with eyelid myoclonia with an <jats:italic>ATP1A3\u2010<\/jats:italic>related neurological disorder.<\/jats:p>","DOI":"10.1002\/epd2.20272","type":"journal-article","created":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T15:59:47Z","timestamp":1725551987000},"page":"847-852","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Epilepsy with eyelid myoclonia in a patient with <i>ATP1A3<\/i>\u2010related neurologic disorder"],"prefix":"10.1002","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2357-9556","authenticated-orcid":false,"given":"Ann","family":"Mertens","sequence":"first","affiliation":[{"name":"Department of Pediatric Epileptology, Functional Neurology and Sleep Disorders, H\u00f4pital Femme M\u00e8re Enfant University Hospitals of Lyon (HCL), Member of ERN EpiCARE  Lyon France"},{"name":"Department of Neurology, Institute for Neuroscience, 4Brain Ghent University Hospital  Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2076-5006","authenticated-orcid":false,"given":"Maria T.","family":"Papadopoulou","sequence":"additional","affiliation":[{"name":"Department of Pediatric Epileptology, Functional Neurology and Sleep Disorders, H\u00f4pital Femme M\u00e8re Enfant University Hospitals of Lyon (HCL), Member of ERN EpiCARE  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthildi Athina","family":"Papathanasiou Terzi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Epileptology, Functional Neurology and Sleep Disorders, H\u00f4pital Femme M\u00e8re Enfant University Hospitals of Lyon (HCL), Member of ERN EpiCARE  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7691-9492","authenticated-orcid":false,"given":"Ga\u00ebtan","family":"Lesca","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Hospitals of Lyon (HCL), Member of ERN EpiCARE, Universit\u00e9 Claude Bernard Lyon 1  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mateusz","family":"Biela","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases Medical University of Wroclaw  Wroc\u0142aw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Smigiel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases Medical University of Wroclaw  Wroc\u0142aw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleni","family":"Panagiotakaki","sequence":"additional","affiliation":[{"name":"Department of Pediatric Epileptology, Functional Neurology and Sleep Disorders, H\u00f4pital Femme M\u00e8re Enfant University Hospitals of Lyon (HCL), Member of ERN EpiCARE  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,9,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000200927"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1772"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(06)80003-X"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq295"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000102"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0335-5"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000008159"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2358"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2019.10.003"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12927"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2020.09.010"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.17241"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2020.11.018"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/epd2.20086"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2015.04.045"}],"container-title":["Epileptic 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