{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:19:25Z","timestamp":1791317965452,"version":"4.3.1"},"reference-count":23,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2016,4,1]],"date-time":"2016-04-01T00:00:00Z","timestamp":1459468800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,4,1]],"date-time":"2016-04-01T00:00:00Z","timestamp":1459468800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"I-CORE Program of the Planning and Budgeting Committee","award":["41\/11"],"award-info":[{"award-number":["41\/11"]}]},{"name":"I-CORE Program of the Planning and Budgeting Committee","award":["1796\/12"],"award-info":[{"award-number":["1796\/12"]}]},{"DOI":"10.13039\/501100003977","name":"Israel Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003977","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2016,4]]},"DOI":"10.1016\/j.ejmg.2016.02.007","type":"journal-article","created":{"date-parts":[[2016,2,24]],"date-time":"2016-02-24T15:16:42Z","timestamp":1456327002000},"page":"204-209","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":43,"title":["A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm"],"prefix":"10.1016","volume":"59","author":[{"given":"Moran","family":"Gal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniella","family":"Magen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Younan","family":"Zahran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarit","family":"Ravid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1439-7881","authenticated-orcid":false,"given":"Ayelet","family":"Eran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morad","family":"Khayat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Gafni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erez Y.","family":"Levanon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"Mandel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2016.02.007_bib1","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1016\/j.ajhg.2013.08.001","article-title":"Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay","volume":"93","author":"Al-Sayed","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2016.02.007_bib2","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1002\/humu.22797","article-title":"A\u00a0gain-of-function mutation in NALCN in a child with intellectual disability, ataxia, and arthrogryposis","volume":"36","author":"Aoyagi","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2016.02.007_bib3","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1186\/1471-2407-9-255","article-title":"Pancreatic cancer related cachexia: influence on metabolism and correlation to weight loss and pulmonary function","volume":"9","author":"Bachmann","year":"2009","journal-title":"BMC Cancer"},{"key":"10.1016\/j.ejmg.2016.02.007_bib4","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1038\/nature11547","article-title":"Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes","volume":"491","author":"Biankin","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2016.02.007_bib5","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1016\/j.ajhg.2015.01.003","article-title":"De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay","volume":"96","author":"Chong","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2016.02.007_bib6","doi-asserted-by":"crossref","DOI":"10.1038\/jhg.2015.163","article-title":"De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia","author":"Fukai","year":"2016","journal-title":"J.\u00a0Hum. Genet."},{"key":"10.1016\/j.ejmg.2016.02.007_bib7","doi-asserted-by":"crossref","first-page":"3326","DOI":"10.1093\/brain\/awr245","article-title":"Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy","volume":"134","author":"Garone","year":"2011","journal-title":"Brain"},{"key":"10.1016\/j.ejmg.2016.02.007_bib8","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1136\/jmedgenet-2013-101634","article-title":"Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism","volume":"50","author":"K\u00f6ro\u011flu","year":"2013","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2016.02.007_bib9","doi-asserted-by":"crossref","first-page":"e78147","DOI":"10.1371\/journal.pone.0078147","article-title":"UNC79 and UNC80, putative auxiliary subunits of the narrow abdomen ion channel, are indispensable for robust circadian locomotor rhythms in drosophila","volume":"8","author":"Lear","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.ejmg.2016.02.007_bib10","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/S0014-5793(99)00082-4","article-title":"Cloning of a novel four repeat protein related to voltage-gated sodium and calcium channels","volume":"445","author":"Lee","year":"1999","journal-title":"FEBS Lett."},{"key":"10.1016\/j.ejmg.2016.02.007_bib11","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/j.cell.2007.02.041","article-title":"The neuronal channel NALCN contributes resting sodium permeability and is required for normal respiratory rhythm","volume":"129","author":"Lu","year":"2007","journal-title":"Cell"},{"key":"10.1016\/j.ejmg.2016.02.007_bib12","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1038\/nature07579","article-title":"Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80","volume":"457","author":"Lu","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2016.02.007_bib13","doi-asserted-by":"crossref","first-page":"e18745","DOI":"10.1371\/journal.pone.0018745","article-title":"A\u00a0sodium leak current regulates pacemaker activity of adult central pattern generator neurons in Lymnaea stagnalis","volume":"6","author":"Lu","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.ejmg.2016.02.007_bib14","article-title":"UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN","author":"Perez","year":"2015","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2016.02.007_bib15","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1136\/jnnp-2012-303232","article-title":"Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase \u03b3 mutations","volume":"84","author":"Pitceathly","year":"2013","journal-title":"J.\u00a0Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.ejmg.2016.02.007_bib16","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1089\/cmb.1997.4.311","article-title":"Improved splice site detection in genie","volume":"4","author":"Reese","year":"1997","journal-title":"J.\u00a0Comput. Biol."},{"key":"10.1016\/j.ejmg.2016.02.007_bib17","first-page":"465","article-title":"Dysmorphic face in two siblings with infantile neuroaxonal dystrophy","volume":"13","author":"Seven","year":"2002","journal-title":"Genet. Couns."},{"key":"10.1016\/j.ejmg.2016.02.007_bib18","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/j.ajhg.2015.11.013","article-title":"Mutations in UNC80, encoding part of the UNC79-UNC80-NALCN channel complex, cause autosomal-recessive severe infantile encephalopathy","volume":"98","author":"Shamseldin","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2016.02.007_bib19","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.ajhg.2015.11.004","article-title":"Biallelic mutations in UNC80 cause persistent hypotonia, encephalopathy, growth retardation, and severe intellectual disability","volume":"98","author":"Stray-Pedersen","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2016.02.007_bib20","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1038\/embor.2009.125","article-title":"The NALCN ion channel is activated by M3 muscarinic receptors in a pancreatic beta-cell line","volume":"10","author":"Swayne","year":"2009","journal-title":"EMBO Rep."},{"key":"10.1016\/j.ejmg.2016.02.007_bib21","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.jns.2008.06.002","article-title":"Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings","volume":"273","author":"Uluc","year":"2008","journal-title":"J.\u00a0Neurol. Sci."},{"key":"10.1016\/j.ejmg.2016.02.007_bib22","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/j.mad.2009.07.006","article-title":"Neuropathology of Cockayne syndrome: evidence for impaired development, premature aging, and neurodegeneration","volume":"130","author":"Weidenheim","year":"2009","journal-title":"Mech. Ageing Dev."},{"key":"10.1016\/j.ejmg.2016.02.007_bib23","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1089\/1066527041410418","article-title":"Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals","volume":"11","author":"Yeo","year":"2004","journal-title":"J.\u00a0Comput. Biol."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721216300271?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721216300271?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:42:40Z","timestamp":1761709360000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721216300271"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,4]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,4]]}},"alternative-id":["S1769721216300271"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2016.02.007","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2016,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2016.02.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2016 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}