{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T21:07:11Z","timestamp":1792098431560,"version":"4.4.0"},"reference-count":28,"publisher":"SAGE Publications","issue":"13","license":[{"start":{"date-parts":[[2015,4,20]],"date-time":"2015-04-20T00:00:00Z","timestamp":1429488000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:p>We describe the molecular basis of a distinctive syndrome characterized by infantile stress-induced episodic weakness, ataxia, and sensorineural hearing loss, with permanent areflexia and optic nerve pallor. Whole exome sequencing identified a deleterious heterozygous c.2452 G&gt;A, p.(E818K) variant in the ATP1A3 gene and structural analysis predicted its protein-destabilizing effect. This variant has not been reported in context with rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood, the 2 main diseases associated with ATP1A3. The clinical presentation in the family described here differs categorically from these diseases in age of onset, clinical course, cerebellar over extrapyramidal movement disorder predominance, and peripheral nervous system involvement. While this paper was in review, a highly resembling phenotype was reported in additional patients carrying the same c.2452 G&gt;A variant. Our findings substantiate this variant as the cause of a unique inherited autosomal dominant neurologic syndrome that constitutes a third allelic disease of the ATP1A3 gene.<\/jats:p>","DOI":"10.1177\/0883073815579708","type":"journal-article","created":{"date-parts":[[2015,4,20]],"date-time":"2015-04-20T22:42:25Z","timestamp":1429569745000},"page":"1749-1756","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":50,"title":["CAOS\u2014Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss"],"prefix":"10.1177","volume":"30","author":[{"given":"Gali","family":"Heimer","sequence":"first","affiliation":[{"name":"Pediatric Neurology Unit, Edmond and Lily Children\u2019s Hospital, The Chaim Sheba Medical Center, Ramat Gan, Israel"},{"name":"The Pinchas Borenstein Talpiot Medical Leadership Program, The Chaim Sheba Medical Center, Ramat Gan, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yair","family":"Sadaka","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lori","family":"Israelian","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, and University of Toronto, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariel","family":"Feiglin","sequence":"additional","affiliation":[{"name":"Center for Biomedical Informatics, Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Ruggieri","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian R.","family":"Marshall","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen W.","family":"Scherer","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Ganelin-Cohen","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Edmond and Lily Children\u2019s Hospital, The Chaim Sheba Medical Center, Ramat Gan, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dina","family":"Marek-Yagel","sequence":"additional","affiliation":[{"name":"Metabolic Disease Unit, Edmond and Lily Children\u2019s Hospital, the Chaim Sheba Medical Center, Ramat Gan, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michal","family":"Tzadok","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Edmond and Lily Children\u2019s Hospital, The Chaim Sheba Medical Center, Ramat Gan, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreea","family":"Nissenkorn","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Edmond and Lily Children\u2019s Hospital, The Chaim Sheba Medical Center, Ramat Gan, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yair","family":"Anikster","sequence":"additional","affiliation":[{"name":"Metabolic Disease Unit, Edmond and Lily Children\u2019s Hospital, the Chaim Sheba Medical Center, Ramat Gan, Israel"},{"name":"The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berge 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