{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T06:53:12Z","timestamp":1792047192951,"version":"4.4.0"},"reference-count":46,"publisher":"American Medical Association (AMA)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Pediatr"],"published-print":{"date-parts":[[2025,5,1]]},"abstract":"<jats:sec id=\"ab-poi240116-4\"><jats:title>Importance<\/jats:title><jats:p>Alternating hemiplegia of childhood (AHC) is a disorder that can result from pathogenic variants in <jats:italic>ATP1A3<\/jats:italic>-encoded sodium-potassium adenosine triphosphatase alpha 3 (ATP1A3). While AHC is primarily a neurologic disease, some individuals experience sudden unexplained death (SUD) potentially associated with cardiac arrhythmias.<\/jats:p><\/jats:sec><jats:sec id=\"ab-poi240116-5\"><jats:title>Objective<\/jats:title><jats:p>To determine the impact of <jats:italic>ATP1A3<\/jats:italic> variants on cardiac electrophysiology and whether lethal ventricular arrhythmias are associated with SUD in patients with AHC.<\/jats:p><\/jats:sec><jats:sec id=\"ab-poi240116-6\"><jats:title>Design, Setting, and Participants<\/jats:title><jats:p>In this international, multicenter case-control study from 12 centers across 10 countries, patients with AHC were grouped by <jats:italic>ATP1A3<\/jats:italic> variant status (positive vs negative) and into subgroups with the most common AHC variants (D801N, E815K, G947R, and other). A healthy control cohort was established for comparison. Blinded, manual measurements of QT intervals and corrected QT interval (QTc) were performed independently by 2 pediatric cardiac electrophysiologists. Induced pluripotent stem cell cardiomyocytes were derived from patients with AHC who were positive for the D801N variant of <jats:italic>ATP1A3<\/jats:italic> (iPSC-CM<jats:sup>D801N<\/jats:sup> cells). Data analysis was performed from April to June 2022.<\/jats:p><\/jats:sec><jats:sec id=\"ab-poi240116-7\"><jats:title>Exposure<\/jats:title><jats:p>Presence of <jats:italic>ATP1A3<\/jats:italic> variant.<\/jats:p><\/jats:sec><jats:sec id=\"ab-poi240116-8\"><jats:title>Main Outcomes and Measures<\/jats:title><jats:p>The primary outcome was QTc. Outcomes, including survival, were abstracted and variants were mapped on cryogenic electron microscopy structure maps. iPSC-CM<jats:sup>D801N<\/jats:sup> cells were used to validate ventricular repolarization and arrhythmic susceptibility in vitro.<\/jats:p><\/jats:sec><jats:sec id=\"ab-poi240116-9\"><jats:title>Results<\/jats:title><jats:p>Among the 222 individuals included (148 with AHC and 74 control), the mean (SD) age at diagnostic electrocardiography was 11.0 (9.4) years and 119 (54%) were female. The cohort with AHC consisted of 148 largely unrelated probands (mean [SD] age at diagnostic electrocardiography, 11.5 [10.5] years). Of these, 123 individuals were <jats:italic>ATP1A3<\/jats:italic> genotype positive, including 35 (28%) with the D801N variant, 21 (17%) with the E815K variant, 8 (7%) with the G947R variant, and 8 (7%) with a loss-of-function variant. Probands with the D801N variant had shorter mean (SD) QTcs (381.8 [36.6] milliseconds; 24 [69%] with QTc &amp;amp;lt;370 milliseconds) compared with those who had the E815K variant (393.6 [43.1] milliseconds; <jats:italic>P<\/jats:italic>\u2009=\u2009.001; 4 [19%] with QTC &amp;amp;lt;370 milliseconds), the G947R variant (388.4 [26.5] milliseconds; <jats:italic>P<\/jats:italic>\u2009=\u2009.02; 1 [13%] with QTc &amp;amp;lt;370 milliseconds), a loss-of-function variant (403.0 [33.5] milliseconds; <jats:italic>P<\/jats:italic>\u2009&amp;amp;lt;\u2009.001; 1 [13%] with QTc &amp;amp;lt;370 milliseconds), all other variants (387.8 [37.1] milliseconds; <jats:italic>P<\/jats:italic>\u2009&amp;amp;lt;\u2009.001; 44 [86%] with QTc &amp;amp;lt;370 milliseconds), and healthy controls (415.4 [21.0] milliseconds; <jats:italic>P<\/jats:italic>\u2009&amp;amp;lt;\u2009.001; 0 with QTc &amp;amp;lt;370 milliseconds). Three D801N-positive individuals had a major cardiac event, compared with 0 major cardiac events in all other individuals (<jats:italic>P<\/jats:italic>\u2009=\u2009.02). The D801N variant and 4 rare variants (D805N, P323S, S772R, and C333F) found in individuals with the shortest QTcs localized to the potassium-binding domain of ATP1A3. IPSC-CM<jats:sup>D801N<\/jats:sup> lines demonstrated shortened action potential duration, higher mean diastolic potential, and delayed afterdepolarizations compared with controls.<\/jats:p><\/jats:sec><jats:sec id=\"ab-poi240116-10\"><jats:title>Conclusions and Relevance<\/jats:title><jats:p>Nearly 70% of individuals with D801N variants of <jats:italic>ATP1A3<\/jats:italic> had short QTcs (&amp;amp;lt;370 milliseconds), with an association between ventricular arrhythmias and cardiac arrest. This may underlie the SUD etiology in AHC.<\/jats:p><\/jats:sec>","DOI":"10.1001\/jamapediatrics.2024.6832","type":"journal-article","created":{"date-parts":[[2025,3,3]],"date-time":"2025-03-03T11:03:56Z","timestamp":1740999836000},"page":"529","source":"Crossref","is-referenced-by-count":13,"title":["<i>ATP1A3<\/i> Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias"],"prefix":"10.1001","volume":"179","author":[{"given":"Mary E.","family":"Moya-Mendez","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Cardiology, Duke University School of Medicine, Durham, North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minu-Tshyeto","family":"Bidzimou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Cardiology, Duke University School of Medicine, Durham, North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Padmapriya","family":"Muralidharan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Cardiology, Duke University School of Medicine, Durham, North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhushan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Cardiology, Duke University School of Medicine, Durham, North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordan E.","family":"Ezekian","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Cardiology, Duke University School of Medicine, Durham, North Carolina"},{"name":"Division of Pediatric Cardiology, Department of Pediatrics, University of Texas Southwestern, Dallas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin M.","family":"Perelli","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, Duke University School of Medicine, Durham, North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren E.","family":"Parker","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Cardiology, Duke University School of Medicine, Durham, North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lyndsey","family":"Prange","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Neurology, Duke University School of Medicine, Durham, North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"April","family":"Boggs","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Neurology, Duke University School of Medicine, Durham, North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey J.","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Cardiology, Baylor College of Medicine, Houston, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taylor S.","family":"Howard","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Cardiology, Baylor College of Medicine, Houston, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarah A.","family":"Word","sequence":"additional","affiliation":[{"name":"Cardiovascular Research Institute, Baylor College of Medicine, Houston, Texas"},{"name":"Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xander H. 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