{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:33:24Z","timestamp":1777329204577,"version":"3.51.4"},"reference-count":4,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2019,11,1]],"date-time":"2019-11-01T00:00:00Z","timestamp":1572566400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,12,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Megalencephalic leukoencephalopathy (MLC) with subcortical cysts, also known as Van der Knaap disease (MIM #604004) is an autosomal recessive neurological disorder characterized by early onset macrocephaly, epilepsy, neurological deterioration with cerebellar ataxia and spasticity. An 8-month-old boy was admitted to our pediatric neurology clinic with macrocephaly. His brain magnetic resonance imaging (MRI) revealed bilateral, diffuse, symmetric structural white matter abnormalities, relatively sparing the cerebellum and bilateral subcortical temporal cysts. The diagnosis of Van der Knaap disease was suspected based on the clinical features and imaging findings and the genetic analysis revealed a novel homozygous c.768+2T&gt;C mutation of the\n                    <jats:italic>MLC1<\/jats:italic>\n                    gene. For determination of the novel splice-site mutation\u2019s effect, cDNA amplification was performed. cDNA analysis showed that the splice-site c.768+2T&gt;C mutation gave rise to exon 9 skipping.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2019-0019","type":"journal-article","created":{"date-parts":[[2019,12,22]],"date-time":"2019-12-22T04:04:25Z","timestamp":1576987465000},"page":"89-92","source":"Crossref","is-referenced-by-count":1,"title":["A Novel splice-site mutation on the\n                    <i>MLC1<\/i>\n                    gene leading to exon 9 skipping and megalencephalic leukoencephalopathy with subcortical cysts in a Turkish patient"],"prefix":"10.2478","volume":"22","author":[{"given":"A","family":"T\u00fcrky\u0131lmaz","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Marmara University School of Medicine , \u0130stanbul , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O","family":"\u00dcnver","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Marmara University School of Medicine , \u0130stanbul , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Ekinci","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology, Marmara University School of Medicine , \u0130stanbul , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"T\u00fcrkdo\u011fan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Marmara University School of Medicine , \u0130stanbul , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2019,12,21]]},"reference":[{"key":"2026042716342049737_j_bjmg-2019-0019_ref_001","doi-asserted-by":"crossref","unstructured":"van der Knaap MS, Barth PG, Stroink H, van Nieuwenhuizen O, Arts WF, Hoogenraad F, et al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol. 1995; 37(3): 324-334.","DOI":"10.1002\/ana.410370308"},{"key":"2026042716342049737_j_bjmg-2019-0019_ref_002","doi-asserted-by":"crossref","unstructured":"Choi SA, Kim SY, Yoon J, Choi J, Park SS, Seong MW, et al. A unique mutational spectrum of MLC1 in Korean patients with megalencephalic leukoencephaopalopathy with subcortical cysts: p.Ala275Asp founder mutation and maternal uniparental disomy of chromosome 22. Ann Lab Med. 2017; 37(6): 516-521.","DOI":"10.3343\/alm.2017.37.6.516"},{"key":"2026042716342049737_j_bjmg-2019-0019_ref_003","doi-asserted-by":"crossref","unstructured":"van der Voorn JP, Pouwels PJ, Hart AA, Serrarens J, Willemsen MA, Kremer HP, et al. Childhood white matter disorders: Quantitative MR imaging and spectroscopy. Radiology. 2006; 241(2): 510-517.","DOI":"10.1148\/radiol.2412051345"},{"key":"2026042716342049737_j_bjmg-2019-0019_ref_004","doi-asserted-by":"crossref","unstructured":"Sugiura C, Shiota M, Maegaki Y, Yoshida K, Koeda T, Kitahara T, et al. Late-onset neuropsychological symptoms in a Japanese patient with megalencephalic leuko-encephalopathy with subcortical cysts. Neuro-pediatrics. 2006; 37(5): 286-290.","DOI":"10.1055\/s-2006-955930"}],"container-title":["Balkan Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/content.sciendo.com\/view\/journals\/bjmg\/22\/2\/article-p89.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/bjmg-2019-0019","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T21:39:22Z","timestamp":1777325962000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/bjmg-2019-0019"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,1]]},"references-count":4,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2019,12,21]]},"published-print":{"date-parts":[[2019,12,21]]}},"alternative-id":["10.2478\/bjmg-2019-0019"],"URL":"https:\/\/doi.org\/10.2478\/bjmg-2019-0019","relation":{},"ISSN":["1311-0160"],"issn-type":[{"value":"1311-0160","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,1]]}}}