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This gene codes for a neuron-specific isoform of the catalytic \u03b1-subunit of the ATP-dependent transmembrane sodium\u2013potassium pump. Heterozygous mutations in this gene have been reported as causing both sporadic and inherited forms of alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism. We discuss the literature on phenotypes associated with known variants in<jats:italic>ATP1A3<\/jats:italic>, examine past functional studies of the role of ATP1A3 in neuronal function, and describe a novel clinical presentation associated with mutation of this gene.<\/jats:p>","DOI":"10.1101\/mcs.a001008","type":"journal-article","created":{"date-parts":[[2016,7,8]],"date-time":"2016-07-08T22:36:32Z","timestamp":1468017392000},"page":"a001008","source":"Crossref","is-referenced-by-count":59,"title":["A novel de novo mutation in<i>ATP1A3<\/i>and childhood-onset schizophrenia"],"prefix":"10.1101","volume":"2","author":[{"given":"Niklas","family":"Smedemark-Margulies","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine A.","family":"Brownstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sigella","family":"Vargas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sahil K.","family":"Tembulkar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meghan C.","family":"Towne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiahai","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Gonzalez-Cuevas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin X.","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaya","family":"Bilguvar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin J.","family":"Kleiman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min-Joon","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alcy","family":"Torres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard T.","family":"Berry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy W.","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan H.","family":"Beggs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pankaj B.","family":"Agrawal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Gonzalez-Heydrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2016,7,7]]},"reference":[{"key":"2021112506102357000_2.5.a001008.1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25873"},{"key":"2021112506102357000_2.5.a001008.2","doi-asserted-by":"publisher","DOI":"10.1007\/s11920-009-0024-y"},{"key":"2021112506102357000_2.5.a001008.3","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"2021112506102357000_2.5.a001008.4","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1038\/ejhg.2015.218","article-title":"De novo variants in sporadic cases of childhood onset schizophrenia","volume":"24","year":"2016","journal-title":"Eur J Hum Genet"},{"key":"2021112506102357000_2.5.a001008.5","doi-asserted-by":"crossref","unstructured":"American Psychiatric Association. 2013. 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