{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T07:32:42Z","timestamp":1790839962979,"version":"4.1.0"},"reference-count":8,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,7,17]],"date-time":"2023-07-17T00:00:00Z","timestamp":1689552000000},"content-version":"vor","delay-in-days":16,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:sec><jats:title>Key Clinical Message<\/jats:title><jats:p>Congenital Contractures of Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) syndrome is a recently described type of distal arthrogryposis which unlike other subtypes is associated with developmental delay and various neurologic presentation. Epilepsy and ataxia have been reported. We add paroxysmal dyskinesia to the clinical spectrum. Understanding the molecular mechanism can help developing targeted therapy in future.<\/jats:p><\/jats:sec><jats:sec><jats:title>Abstract<\/jats:title><jats:p>This study resulted in identification of a novel variant in <jats:italic>NALCN<\/jats:italic> gene leading to autosomal dominant CLIFAHDD syndrome. Our patient presented with a form of nonepileptic paroxysmal dyskinesia. This is a new phenotype that has not been described previously.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ccr3.7647","type":"journal-article","created":{"date-parts":[[2023,7,18]],"date-time":"2023-07-18T04:41:24Z","timestamp":1689655284000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["New presentation of CLIFAHDD syndrome with a novel variant in <i>NALCN<\/i> gene: A report of a rare case"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5772-008X","authenticated-orcid":false,"given":"Bita","family":"Hashemi","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics University of Saskatchewan  Saskatoon Saskatchewan Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J.","family":"Huntsman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Neurology University of Saskatchewan  Saskatoon Saskatchewan Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Biology, College of Arts and Sciences Saint Louis University  Saint Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dapeng","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Biology, College of Arts and Sciences Saint Louis University  Saint Louis Missouri USA"},{"name":"Program of Bioinformatics and Computational Biology, College of Arts and Sciences Saint Louis University  Saint Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanwei","family":"Xi","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Genomics Laboratory University of Saskatchewan  Saskatoon Saskatchewan Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,7,17]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.02.041"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.01.003"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003095"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12899"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-018-1929-5"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.163"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-19667-z"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2570-8"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.7647","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T08:39:27Z","timestamp":1692261567000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.7647"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7]]},"references-count":8,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["10.1002\/ccr3.7647"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.7647","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7]]},"assertion":[{"value":"2023-02-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e7647"}}