{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T09:45:49Z","timestamp":1790761549236,"version":"4.1.0"},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,4,3]],"date-time":"2019-04-03T00:00:00Z","timestamp":1554249600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81571265 and 31530092"],"award-info":[{"award-number":["81571265 and 31530092"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31801043"],"award-info":[{"award-number":["31801043"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:p>Alternating hemiplegia of childhood (AHC) is a rare and severe neurodevelopmental disorder characterized by recurrent hemiplegic episodes. Most AHC cases are sporadic and caused by <jats:italic>de novo ATP1A3<\/jats:italic> pathogenic variants. In this study, the aim was to identify the origin of <jats:italic>ATP1A3<\/jats:italic> pathogenic variants in a Chinese cohort. In 105 probands including 101 sporadic and 4 familial cases, 98 patients with <jats:italic>ATP1A3<\/jats:italic> pathogenic variants were identified, and 96.8% were confirmed as <jats:italic>de novo<\/jats:italic>. Micro\u2010droplet digital polymerase chain reaction was applied for detecting <jats:italic>ATP1A3<\/jats:italic> mosaicism in 80 available families. In blood samples, four asymptomatic parents, including two paternal and two maternal, and one proband with a milder phenotype were identified as mosaicism. Six (7.5%) parental mosaicisms were identified in multiple tissues, including four previously identified in blood and two additional cases identified from paternal sperms. Mosaicism was identified in multiple tissues with varied mutant allele fractions (MAFs, 0.03%\u201033.03%). The results suggested that MAF of mosaicism may be related to phenotype severity. This is the first systematic report of <jats:italic>ATP1A3<\/jats:italic> mosaicism in AHC and showed mosaicism as an unrecognized source of previously considered \u201c<jats:italic>de novo<\/jats:italic>\u201d AHC. Identifying <jats:italic>ATP1A3<\/jats:italic> mosaicism provides more evidence for estimating recurrence risk and has implications in genetic counseling of AHC.<\/jats:p>","DOI":"10.1111\/cge.13539","type":"journal-article","created":{"date-parts":[[2019,3,20]],"date-time":"2019-03-20T05:55:20Z","timestamp":1553061320000},"page":"43-52","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["<i>ATP1A3<\/i> mosaicism in families with alternating hemiplegia of childhood"],"prefix":"10.1111","volume":"96","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7953-5678","authenticated-orcid":false,"given":"Xiaoling","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing 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