{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T17:49:15Z","timestamp":1788544155128,"version":"build-2803163510"},"reference-count":20,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T00:00:00Z","timestamp":1535760000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T00:00:00Z","timestamp":1535760000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,6,2]],"date-time":"2018-06-02T00:00:00Z","timestamp":1527897600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1U54HD090255"],"award-info":[{"award-number":["1U54HD090255"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS058949"],"award-info":[{"award-number":["NS058949"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006367","name":"Tommy Fuss Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006367","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011096","name":"Jazz Pharmaceuticals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011096","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013143","name":"Manton Center for Orphan Disease Research, Boston Children&apos;s Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013143","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2018,9]]},"DOI":"10.1016\/j.ymgmr.2018.06.001","type":"journal-article","created":{"date-parts":[[2018,6,15]],"date-time":"2018-06-15T20:44:20Z","timestamp":1529095460000},"page":"23-29","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":14,"special_numbering":"C","title":["De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome"],"prefix":"10.1016","volume":"16","author":[{"given":"Alcy","family":"Torres","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine A.","family":"Brownstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sahil K.","family":"Tembulkar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelsey","family":"Graber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Casie","family":"Genetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin J.","family":"Kleiman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen J.","family":"Sweadner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chrystal","family":"Mavros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin X.","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niklas","family":"Smedemark-Margulies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiran","family":"Maski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pankaj B.","family":"Agrawal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6467-8289","authenticated-orcid":false,"given":"Jiahai","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan H.","family":"Beggs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugene","family":"D'Angelo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah Hope","family":"Lincoln","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Devon","family":"Carroll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatma","family":"Dedeoglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine M.","family":"Biggs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn J.","family":"Swoboda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard T.","family":"Berry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Gonzalez-Heydrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"6","key":"10.1016\/j.ymgmr.2018.06.001_bb0005","doi-asserted-by":"crossref","first-page":"785","DOI":"10.5664\/jcsm.5866","article-title":"Recommended amount of sleep for pediatric populations: a consensus statement of the American Academy of sleep medicine","volume":"12","author":"Paruthi","year":"2016","journal-title":"J. Clin. Sleep Med."},{"key":"10.1016\/j.ymgmr.2018.06.001_bb0010","series-title":"International Classification of Sleep Disorders","author":"Medicine AAoS","year":"2014"},{"issue":"4","key":"10.1016\/j.ymgmr.2018.06.001_bb0015","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1111\/j.1399-0039.1997.tb02761.x","article-title":"Extensive HLA class II studies in 58 non-DRB1*15 (DR2) narcoleptic patients with cataplexy","volume":"49","author":"Mignot","year":"1997","journal-title":"Tissue Antigens"},{"key":"10.1016\/j.ymgmr.2018.06.001_bb0020","series-title":"Current Protocols in Protein Science","article-title":"Comparative protein structure modeling using MODELLER","volume":"86","author":"Webb","year":"2016"},{"issue":"9","key":"10.1016\/j.ymgmr.2018.06.001_bb0025","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1038\/ng.2358","article-title":"De novo mutations in ATP1A3cause alternating hemiplegia of childhood","volume":"44","author":"Heinzen","year":"2012","journal-title":"Nat. Genet."},{"issue":"27","key":"10.1016\/j.ymgmr.2018.06.001_bb0030","doi-asserted-by":"crossref","first-page":"18539","DOI":"10.1074\/jbc.M601780200","article-title":"Mutations Phe785Leu and Thr618Met in Na+, K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms","volume":"281","author":"Rodacker","year":"2006","journal-title":"J. Biol. Chem."},{"issue":"3","key":"10.1016\/j.ymgmr.2018.06.001_bb0035","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1038\/ng756","article-title":"Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome","volume":"29","author":"Hoffman","year":"2001","journal-title":"Nat. Genet."},{"issue":"4","key":"10.1016\/j.ymgmr.2018.06.001_bb0040","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.ajhg.2009.03.010","article-title":"DECIPHER: database of chromosomal imbalance and phenotype in humans using ensembl resources","volume":"84","author":"Firth","year":"2009","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.ymgmr.2018.06.001_bb0045","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1007\/s10803-006-0280-1","article-title":"The autism diagnostic observation schedule: revised algorithms for improved diagnostic validity","volume":"37","author":"Gotham","year":"2007","journal-title":"J. Autism Dev. Disord."},{"issue":"2","key":"10.1016\/j.ymgmr.2018.06.001_bb0050","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1007\/BF02211841","article-title":"Autism diagnostic observation schedule: a standardized observation of communicative and social behavior","volume":"19","author":"Lord","year":"1989","journal-title":"J. Autism Dev. Disord."},{"issue":"10","key":"10.1016\/j.ymgmr.2018.06.001_bb0055","doi-asserted-by":"crossref","first-page":"2400","DOI":"10.1007\/s10803-012-1719-1","article-title":"Standardizing ADOS domain scores: separating severity of social affect and restricted and repetitive behaviors","volume":"44","author":"Hus","year":"2014","journal-title":"J. Autism Dev. Disord."},{"key":"10.1016\/j.ymgmr.2018.06.001_bb0060","series-title":"Diagnostic and Statistical Manual of Mental Disorders (DSM-5\u00ae)","author":"Association AP","year":"2013"},{"issue":"5","key":"10.1016\/j.ymgmr.2018.06.001_bb0065","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/S1474-4422(14)70011-0","article-title":"Distinct neurological disorders with ATP1A3mutations","volume":"13","author":"Heinzen","year":"2014","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.ymgmr.2018.06.001_bb0070","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/1750-1172-9-15","article-title":"A novel recurrent mutation in ATP1A3causes CAPOS syndrome","volume":"9","author":"Demos","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"issue":"7245","key":"10.1016\/j.ymgmr.2018.06.001_bb0075","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1038\/nature07939","article-title":"Crystal structure of the sodium-potassium pump at 2.4 A resolution","volume":"459","author":"Shinoda","year":"2009","journal-title":"Nature"},{"issue":"11","key":"10.1016\/j.ymgmr.2018.06.001_bb0080","doi-asserted-by":"crossref","first-page":"1807","DOI":"10.1016\/j.bbabio.2016.08.009","article-title":"Neurological disease mutations of alpha3 Na+,K+-ATPase: structural and functional perspectives and rescue of compromised function","volume":"1857","author":"Holm","year":"2016","journal-title":"Biochim. Biophys. Acta"},{"issue":"4","key":"10.1016\/j.ymgmr.2018.06.001_bb0085","doi-asserted-by":"crossref","first-page":"1273","DOI":"10.1002\/art.22491","article-title":"The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model","volume":"56","author":"Aksentijevich","year":"2007","journal-title":"Arthritis Rheum."},{"issue":"12","key":"10.1016\/j.ymgmr.2018.06.001_bb0090","doi-asserted-by":"crossref","first-page":"4045","DOI":"10.1002\/art.20633","article-title":"Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1\/PYPAF1\/NALP3 gene","volume":"50","author":"Arostegui","year":"2004","journal-title":"Arthritis Rheum."},{"issue":"2","key":"10.1016\/j.ymgmr.2018.06.001_bb0095","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1093\/intimm\/dxt046","article-title":"Novel NLRP3\/cryopyrin mutations and pro-inflammatory cytokine profiles in Behcet's syndrome patients","volume":"26","author":"Yuksel","year":"2014","journal-title":"Int. Immunol."},{"issue":"3","key":"10.1016\/j.ymgmr.2018.06.001_bb0100","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1038\/ng0797-289","article-title":"Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene","volume":"16","author":"Pastural","year":"1997","journal-title":"Nat. Genet."}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426918300648?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426918300648?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T15:54:29Z","timestamp":1778860469000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214426918300648"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9]]},"references-count":20,"alternative-id":["S2214426918300648"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2018.06.001","relation":{},"ISSN":["2214-4269"],"issn-type":[{"value":"2214-4269","type":"print"}],"subject":[],"published":{"date-parts":[[2018,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2018.06.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}