{
  "abstract": "Background: Andersen-Tawil syndrome (ATS) is a rare disorder featuring ventricular arrhythmias, periodic paralysis, and skeletal anomalies. KCNJ2 mutations account for about 70% of cases. We report a child with a novel KCNJ2 mutation and subclinical hypothyroidism, an association not previously described.\n\nCase presentation: A 10-year-old boy presented with episodic limb weakness, palpitations, low-set ears, and bilateral fifth-finger bending. Labs showed spontaneous normokalemia without potassium supplementation, elevated creatine kinase, and subclinical hypothyroidism. ECG revealed frequent ventricular premature beats. Genetic testing identified a heterozygous KCNJ2 c.461G > A (p.C154Y) mutation, confirmed as de novo.\n\nResults: The patient was treated with propafenone and acetazolamide. At six months, paralytic episodes decreased from weekly to one mild event, and premature beats reduced markedly on Holter. No adverse effects occurred.\n\nConclusion: This case expands the KCNJ2 mutation spectrum and suggests thyroid screening may be considered in ATS. With proper treatment, short-term prognosis is favorable.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Endocrinology and Metabolism, Shandong Medical and Pharmaceutical University Hospital, Shandong Medical and Pharmaceutical University, Binzhou, Shandong, China"
  ],
  "article_type": "case report",
  "arxiv": null,
  "author_total": 4,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Meiqi Feng"
    },
    {
      "affs": [
        0
      ],
      "name": "Xi Wang"
    },
    {
      "affs": [
        0
      ],
      "name": "Lingshan Hu"
    },
    {
      "affs": [
        0
      ],
      "name": "Lei Zhang"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/a0khzfk900me8.bib",
  "cited_by": 0,
  "doi": "10.3389/fped.2026.1961456",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13696520/",
  "id": "a0khzfk900me8",
  "issns": [
    "2296-2360"
  ],
  "landing_url": "https://doi.org/10.3389/fped.2026.1961456",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Case Report"
    ],
    [
      "openalex",
      "2705|Cardiac electrophysiology and arrhythmias"
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  "openalex": "W7221548541",
  "pdf_url": "https://europepmc.org/articles/PMC13696520?pdf=render",
  "pmcid": "PMC13696520",
  "pmid": "42935978",
  "published": "2026-10-12",
  "publisher": "Frontiers Media SA",
  "ris": "https://research.draconitic.com/paper/a0khzfk900me8.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:17:51Z",
      "native_id": "PMC13696520",
      "source": "pmc",
      "url": "https://doi.org/10.3389/fped.2026.1961456"
    },
    {
      "first_seen": "2026-10-30T12:22:24Z",
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      "url": "https://europepmc.org/article/MED/42935978"
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  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2705|Cardiac electrophysiology and arrhythmias",
      "subfield": "cardiovascular"
    }
  ],
  "title": "KCNJ2 gene spontaneous missense mutation in a child with Andersen-Tawil syndrome: a case report",
  "title_text": "KCNJ2 gene spontaneous missense mutation in a child with Andersen-Tawil syndrome: a case report",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:33:50Z",
  "url": "https://research.draconitic.com/paper/a0khzfk900me8",
  "venue": "Frontiers in Pediatrics",
  "versions": []
}