{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T02:31:37Z","timestamp":1777516297043,"version":"3.51.4"},"reference-count":19,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Child Neurology Open"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>Neurologic disorders caused by mutations in the ATP1A3 gene were originally reported as three distinct rare clinical syndromes: Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Opticus atrophy and Sensorineural hearing loss (CAPOS). In this case series, we describe 3 patients. A mother and her daughter showed an intermediate phenotype different from each other with the same heterozygous missense mutation (p.[R756C]), recently described in literature as Relapsing Encephalopathy With Cerebellar Ataxia (RECA). In addition, a third patient showed an intermediate AHC-RDP phenotype and had a likely pathogenic novel de novo missense mutation (p.[L100\u2005V]). These patients support the growing evidence that AHC, RDP and RECA are part of a continuous ATP1A3 mutation spectrum that is still expanding. Three common features were a sudden onset, asymmetrical neurological symptoms, as well as the presence of triggering factors. When present, the authors argue to perform exome sequencing in an early stage.<\/jats:p>","DOI":"10.1177\/2329048x211048068","type":"journal-article","created":{"date-parts":[[2021,11,3]],"date-time":"2021-11-03T10:53:48Z","timestamp":1635936828000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Expanding Phenotype of\n                    <i>ATP1A3<\/i>\n                    - Related Disorders: A Case Series"],"prefix":"10.1177","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1003-0388","authenticated-orcid":false,"given":"Jelena","family":"De Vrieze","sequence":"first","affiliation":[{"name":"Amphia Hospital, Breda, the Netherlands"},{"name":"University Hospital of Antwerp, Antwerp, Belgium"},{"name":"Heilig Hart Hospital Lier, Lier, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid M.B.H.","family":"van de 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