{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T11:12:48Z","timestamp":1740136368498,"version":"3.37.3"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2022,1,28]],"date-time":"2022-01-28T00:00:00Z","timestamp":1643328000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2022,1,28]],"date-time":"2022-01-28T00:00:00Z","timestamp":1643328000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100004731","name":"Natural Science Foundation of Zhejiang Province","doi-asserted-by":"publisher","award":["LQ20H090018"],"award-info":[{"award-number":["LQ20H090018"]}],"id":[{"id":"10.13039\/501100004731","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2022,4]]},"DOI":"10.1007\/s10072-021-05824-9","type":"journal-article","created":{"date-parts":[[2022,1,28]],"date-time":"2022-01-28T00:04:01Z","timestamp":1643328241000},"page":"2853-2858","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy"],"prefix":"10.1007","volume":"43","author":[{"given":"Caihong","family":"Ji","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dengchang","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3664-0638","authenticated-orcid":false,"given":"Kang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,1,28]]},"reference":[{"key":"5824_CR1","doi-asserted-by":"publisher","first-page":"1003","DOI":"10.1038\/s10038-020-0803-1","volume":"65","author":"LL Becker","year":"2020","unstructured":"Becker LL et al (2020) The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification. J Hum Genet 65:1003\u20131017. https:\/\/doi.org\/10.1038\/s10038-020-0803-1","journal-title":"J Hum Genet"},{"key":"5824_CR2","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1038\/ng.2613","volume":"45","author":"K Poirier","year":"2013","unstructured":"Poirier K et al (2013) Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet 45:639\u2013647. https:\/\/doi.org\/10.1038\/ng.2613","journal-title":"Nat Genet"},{"key":"5824_CR3","doi-asserted-by":"publisher","first-page":"2049","DOI":"10.1002\/ajmg.a.61729","volume":"182","author":"S Amabile","year":"2020","unstructured":"Amabile S et al (2020) DYNC1H1-related disorders: a description of four new unrelated patients and a comprehensive review of previously reported variants. Am J Med Genet A 182:2049\u20132057. https:\/\/doi.org\/10.1002\/ajmg.a.61729","journal-title":"Am J Med Genet A"},{"key":"5824_CR4","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"5824_CR5","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2021.05.005","author":"A Matsumoto","year":"2021","unstructured":"Matsumoto A et al (2021) Two cases of DYNC1H1 mutations with intractable epilepsy. Brain Dev. https:\/\/doi.org\/10.1016\/j.braindev.2021.05.005","journal-title":"Brain Dev"},{"key":"5824_CR6","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/j.ejpn.2020.12.011","volume":"30","author":"S Kolbjer","year":"2021","unstructured":"Kolbjer S, Martin DA, Pettersson M, Dahlin M, Anderlid BM (2021) Lissencephaly in an epilepsy cohort: molecular, radiological and clinical aspects. Eur J Paediatr Neurol 30:71\u201381. https:\/\/doi.org\/10.1016\/j.ejpn.2020.12.011","journal-title":"Eur J Paediatr Neurol"},{"key":"5824_CR7","doi-asserted-by":"publisher","unstructured":"(2021) Diverse genetic causes of polymicrogyria with epilepsy. Epilepsia 62:973\u2013983. https:\/\/doi.org\/10.1111\/epi.16854","DOI":"10.1111\/epi.16854"},{"key":"5824_CR8","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1038\/s41598-017-00208-6","volume":"7","author":"Z Lin","year":"2017","unstructured":"Lin Z et al (2017) Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies. Sci Rep 7:258. https:\/\/doi.org\/10.1038\/s41598-017-00208-6","journal-title":"Sci Rep"},{"key":"5824_CR9","doi-asserted-by":"publisher","first-page":"2124","DOI":"10.1007\/s00415-015-7727-2","volume":"262","author":"AV Strickland","year":"2015","unstructured":"Strickland AV et al (2015) Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1. J Neurol 262:2124\u20132134. https:\/\/doi.org\/10.1007\/s00415-015-7727-2","journal-title":"J Neurol"},{"key":"5824_CR10","doi-asserted-by":"publisher","first-page":"668","DOI":"10.1212\/wnl.0000000000001269","volume":"84","author":"M Scoto","year":"2015","unstructured":"Scoto M et al (2015) Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy. Neurology 84:668\u2013679. https:\/\/doi.org\/10.1212\/wnl.0000000000001269","journal-title":"Neurology"},{"key":"5824_CR11","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1136\/jmedgenet-2011-100542","volume":"49","author":"MH Willemsen","year":"2012","unstructured":"Willemsen MH et al (2012) Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. J Med Genet 49:179\u2013183. https:\/\/doi.org\/10.1136\/jmedgenet-2011-100542","journal-title":"J Med Genet"},{"key":"5824_CR12","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1002\/dvdy.24238","volume":"244","author":"ML Yang","year":"2015","unstructured":"Yang ML et al (2015) CNS myelination requires cytoplasmic dynein function. Dev Dyn 244:134\u2013145. https:\/\/doi.org\/10.1002\/dvdy.24238","journal-title":"Dev Dyn"},{"key":"5824_CR13","doi-asserted-by":"publisher","first-page":"641","DOI":"10.1016\/j.tins.2013.08.001","volume":"36","author":"G Schiavo","year":"2013","unstructured":"Schiavo G, Greensmith L, Hafezparast M, Fisher EM (2013) Cytoplasmic dynein heavy chain: the servant of many masters. Trends Neurosci 36:641\u2013651. https:\/\/doi.org\/10.1016\/j.tins.2013.08.001","journal-title":"Trends Neurosci"},{"key":"5824_CR14","doi-asserted-by":"publisher","first-page":"104063","DOI":"10.1016\/j.ejmg.2020.104063","volume":"63","author":"LM Viollet","year":"2020","unstructured":"Viollet LM et al (2020) A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies. Eur J Med Genet 63:104063. https:\/\/doi.org\/10.1016\/j.ejmg.2020.104063","journal-title":"Eur J Med Genet"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-021-05824-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-021-05824-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-021-05824-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,12]],"date-time":"2022-03-12T07:15:46Z","timestamp":1647069346000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-021-05824-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,28]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["5824"],"URL":"https:\/\/doi.org\/10.1007\/s10072-021-05824-9","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"type":"print","value":"1590-1874"},{"type":"electronic","value":"1590-3478"}],"subject":[],"published":{"date-parts":[[2022,1,28]]},"assertion":[{"value":"8 September 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 December 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 January 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the Ethical Committee of the First Affiliated Hospital, College of Medicine,\u00a0Zhejiang University. All the followed procedures were conformed to the principles of the Declaration of Helsinki","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Written informed consent was obtained from the parents.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"The parents have consented to the submission of the case report to the journal.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}