{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:36:43Z","timestamp":1786649803940,"version":"build-2736575974"},"reference-count":6,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","license":[{"start":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T00:00:00Z","timestamp":1763424000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,1]]},"abstract":"\n Andersen\u2013Tawil syndrome (ATS) is a rare genetic disorder characterized by a triad of periodic paralysis, cardiac arrhythmias, and dysmorphic features, typically presenting in the first two decades of life. A 45-year-old man presented with acute lower motor neuron-type quadriparesis. He reported similar self-resolving episodes over the past 2 years, triggered by rest after exercise. There were no cardiac symptoms, dysmorphic features, or relevant family history. Biochemical evaluation revealed hypokalemia. Genetic testing confirmed a heterozygous nonsense mutation in the\n KCNJ2<\/jats:italic>\n gene (c.13C>T, p.Arg5Ter). Cardiac and dental evaluations were normal. He was treated with potassium supplementation and later acetazolamide, with no recurrence over 2 years. This case highlights a rare adult-onset presentation of ATS without cardiac or dysmorphic features and a negative family history, contributing to the limited adult ATS literature.\n <\/jats:p>","DOI":"10.4103\/aian.aian_498_25","type":"journal-article","created":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T22:00:13Z","timestamp":1770328813000},"page":"91-93","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Case Report of Andersen\u2013Tawil Syndrome: Rare Presentation of a Rare Disease"],"prefix":"10.4103","volume":"29","author":[{"given":"Himanshu","family":"Shakya","sequence":"first","affiliation":[{"name":"Department of Neurology, Institute of Human Behaviour and Allied Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shivangi","family":"Bhatnagar","sequence":"additional","affiliation":[{"name":"Department of Prosthodontics, Inderprastha Dental College and Hospital, Ghaziabad, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pratik","family":"Babel","sequence":"additional","affiliation":[{"name":"Department of Neurology, Institute of Human Behaviour and Allied Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suman","family":"Kushwaha","sequence":"additional","affiliation":[{"name":"Department of Neurology, Institute of Human Behaviour and Allied Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajinder K","family":"Dhamija","sequence":"additional","affiliation":[{"name":"Department of Neurology, Institute of Human Behaviour and Allied Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,11,18]]},"reference":[{"key":"R2-20260420","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1111\/j.1651-2227.1971.tb06990.x","article-title":"Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?","volume":"60","author":"Andersen","year":"1971","journal-title":"Acta Paediatr Scand"},{"key":"R3-20260420","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1002\/ana.410350313","article-title":"Andersen\u2019s syndrome: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features","volume":"35","author":"Tawil","year":"1994","journal-title":"Ann Neurol"},{"key":"R4-20260420","doi-asserted-by":"crossref","first-page":"507","DOI":"10.3390\/biom14040507","article-title":"Phenotypic variability of Andersen\u2013Tawil syndrome due to allelic mutation c.652C>T in the KCNJ2 gene\u2014A new family case report","volume":"14","author":"Onore","year":"2024","journal-title":"Biomolecules"},{"key":"R5-20260420","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1002\/mus.26009","article-title":"Review of the diagnosis and treatment of periodic paralysis","volume":"57","author":"Statland","year":"2018","journal-title":"Muscle Nerve"},{"key":"R6-20260420","first-page":"92","article-title":"An overview of malocclusion in India","volume":"3","author":"Agarwal","year":"2015","journal-title":"J Dent Health Oral Disord Ther"},{"key":"R7-20260420","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1097\/CRD.0000000000000326","article-title":"Andersen-Tawil syndrome: A comprehensive review","volume":"29","author":"Perez-Riera","year":"2021","journal-title":"Cardiol Rev"}],"container-title":["Annals of Indian Academy of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_498_25","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T18:58:34Z","timestamp":1786647514000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_498_25"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,18]]},"references-count":6,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.4103\/aian.aian_498_25","relation":{},"ISSN":["0972-2327","1998-3549"],"issn-type":[{"value":"0972-2327","type":"print"},{"value":"1998-3549","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,18]]},"assertion":[{"value":"2025-05-23","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-10","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}