{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T22:45:45Z","timestamp":1789771545839,"version":"4.0.1"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,7,7]],"date-time":"2019-07-07T00:00:00Z","timestamp":1562457600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002784","name":"Canada Excellence Research Chairs, Government of Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002784","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000233","name":"Genome British Columbia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000233","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004111","name":"Leading Edge Endowment Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004111","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: Primary periodic paralyses (PPs) are rare genetic neuromuscular disorders commonly caused by mutations in genes related to ion channel function. However, 10%\u201320% of cases remain as genetically unexplained. Herein we present a family with PP with paralytic episodes generally lasting for 1\u20137 days at a time, associated with a drop in K<jats:sup>+<\/jats:sup> levels. <jats:italic>Methods<\/jats:italic>: Screening for mutations in known disease\u2010causing genes was negative, hence we performed whole\u2010exome sequencing of 5 family members. <jats:italic>Results<\/jats:italic>: Minichromosome maintenance 3\u2013associated protein (<jats:italic>MCM3AP<\/jats:italic>) c.2615G&gt;A (p.C872Y) was found to cosegregate with disease in the family and was not present in control subjects. The mutation is novel, highly conserved across multiple species, and predicted to be damaging. <jats:italic>Discussion<\/jats:italic>: <jats:italic>MCM3AP<\/jats:italic> encodes germinal center\u2013associated nuclear protein (GANP), a protein involved in the export of certain messenger RNAs from the nucleus to the cytoplasm. Our findings suggest that a novel mutation in <jats:italic>MCM3AP<\/jats:italic> is associated with hypokalemic PP. <jats:italic>Muscle Nerve<\/jats:italic>, 2019<\/jats:p>","DOI":"10.1002\/mus.26622","type":"journal-article","created":{"date-parts":[[2019,6,26]],"date-time":"2019-06-26T10:58:55Z","timestamp":1561546735000},"page":"311-314","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Family with primary periodic paralysis and a mutation in <i>MCM3AP<\/i>, a gene implicated in mRNA transport"],"prefix":"10.1002","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0541-7537","authenticated-orcid":false,"given":"Emil K.","family":"Gustavsson","sequence":"first","affiliation":[{"name":"Djavad Mowafaghian Centre for Brain Health  2215 Wesbrook Mall, Vancouver, BC V6T 1Z3 Canada"},{"name":"Department of Neurology St. Olav's Hospital  Trondheim Norway"},{"name":"Department of Neuromedicine and Movement Science Norwegian University of Science and Technology  Trondheim Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordan","family":"Follett","sequence":"additional","affiliation":[{"name":"Djavad Mowafaghian Centre for Brain Health  2215 Wesbrook Mall, Vancouver, BC V6T 1Z3 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew J.","family":"Farrer","sequence":"additional","affiliation":[{"name":"Djavad Mowafaghian Centre for Brain Health  2215 Wesbrook Mall, Vancouver, BC V6T 1Z3 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan O.","family":"Aasly","sequence":"additional","affiliation":[{"name":"Department of Neurology St. Olav's Hospital  Trondheim Norway"},{"name":"Department of Neuromedicine and Movement Science Norwegian University of Science and Technology  Trondheim Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,7,7]]},"reference":[{"key":"e_1_2_7_2_1","unstructured":"VicartS SternbergD Arzel\u2010HezodeM FranquesJ BendahhouS LoryP et al. Hypokalemic periodic paralysis.1993."},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000342387.65477.46"},{"key":"e_1_2_7_4_1","first-page":"1340","article-title":"Primary periodic paralysis","volume":"107","author":"Aasly J.","year":"1987","journal-title":"Tidsskr Nor Laegeforen"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awx138"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awx222"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13101"},{"key":"e_1_2_7_10_1","unstructured":"Online Mendelian Inheritance in Man. Available athttps:\/\/omim.org\/. Johns Hopkins University (Baltimore MD) Accessed June 20 2019."},{"key":"e_1_2_7_11_1","volume-title":"Mitochondrial DNA\u2010associated Leigh syndrome and NARP. GeneReviews [Internet]","author":"Thorburn DR","year":"2003"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25453"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000436067.43384.0b"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.142"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2009.10.078"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(00)00336-X"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku095"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm4010"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.26622","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.26622","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mus.26622","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.26622","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T04:53:11Z","timestamp":1694321591000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.26622"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,7]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["10.1002\/mus.26622"],"URL":"https:\/\/doi.org\/10.1002\/mus.26622","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7,7]]},"assertion":[{"value":"2018-07-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}