{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T20:04:28Z","timestamp":1789243468004,"version":"build-2803163510"},"reference-count":45,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,3,6]],"date-time":"2024-03-06T00:00:00Z","timestamp":1709683200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p><jats:bold>Background:<\/jats:bold> Developmental and epileptic encephalopathies (DEEs) are a group of heterogeneous neurodevelopmental diseases characterized mainly by developmental delay\/intellectual disability and early-onset epilepsy. Researchers have identified variations in the <jats:italic>KCNT2<\/jats:italic> gene (OMIM* 610044) as the cause of DEE type 57 (MIM# 617771).<\/jats:p><jats:p><jats:bold>Case presentation:<\/jats:bold> We report in this study a 46-year-old woman who presented with early-onset epilepsy, intellectual disability, hypertrichosis, coarse facial features, and short stature. Besides, there were four other affected individuals in her family history, including two elder brothers, a younger brother, and their mother. We collected blood samples from the proband, her two affected brothers, and her clinically normal daughter for genetic analysis. Clinical exome sequencing revealed a novel heterozygous variant in the <jats:italic>KCNT2<\/jats:italic> gene (NM_198503: c.188G&amp;gt;A, p.Arg63His) in the proband and her two affected brothers, while her daughter did not carry this variant. Furthermore, we reviewed all 25 patients identified in the literature with <jats:italic>KCNT2<\/jats:italic> variants and compared their phenotypes.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> Epilepsy and intellectual disability\/developmental delay occur in almost all patients with <jats:italic>KCNT2<\/jats:italic> variants. <jats:italic>KCNT2<\/jats:italic>-relevant DEEs partially overlap with the clinical phenotypes of K<jats:sub>ATP<\/jats:sub> channel diseases, particularly in hypertrichosis and distinctive coarse facial features.<\/jats:p>","DOI":"10.3389\/fgene.2024.1371282","type":"journal-article","created":{"date-parts":[[2024,3,6]],"date-time":"2024-03-06T05:13:23Z","timestamp":1709702003000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review"],"prefix":"10.3389","volume":"15","author":[{"given":"Fengji","family":"Cui","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuoya","family":"Wulan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor Wei","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuhua","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,3,6]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"431","DOI":"10.18388\/abp.2020_5364","article-title":"New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: case study and literature review","volume":"67","author":"Alagoz","year":"2020","journal-title":"Acta Biochim. 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