{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T20:57:33Z","timestamp":1740171453984,"version":"3.37.3"},"reference-count":0,"publisher":"The Scientific and Technological Research Council of Turkey (TUBITAK-ULAKBIM) - DIGITAL COMMONS JOURNALS","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Turk J Med Sci"],"abstract":"<jats:p>Background and aim: The number of reports on the role of tubulin gene mutations (TUBA1A, TUBB2B, and TUBB3) in etiology of malformations of cortical development has peaked in recent years. We aimed to determine tubulin gene defects on a patient population with simple and complex malformations of cortical development, and investigate the relationship between tubulin gene mutations and disease phenotype.Materials and methods: We evaluated 47 patients with simple or complex malformations of cortical development, as determined by radiological examination, for demographic features, clinical findings and mutations on TUBA1A, TUBB2B, and TUBB3 genes. Results: According to the magnetic resonance imaging findings, 19 patients (40.5%) had simple malformations of cortical development and  28  (59.5%)  patients  had  complex  malformations  of  cortical  development.  Focal  cortical  dysplasia  was  the  most  common  simple  malformation, lissencephaly was the most common coexisting cortical malformation, and corpus callosum anomalies were the most common coexisting extracortical neurodevelopmental abnormalities. None of the patients had genetic alterations on TUBA1A, TUBB2B, and TUBB3 genes causing protein dysfunction. On the other hand, the frequencies of some polymorphisms were higher when compared to the literature.Conclusion: It is crucial to identify the etiology in patients with malformations of cortical development in order to provide appropriate genetic counseling and prenatal diagnosis. We consider that multicenter studies with higher patient numbers and also including other malformations  of  cortical  development-related  genes  are  required  to  determine  underlying  etiological  factors  of  malformations  of  cortical development patients.<\/jats:p>","DOI":"10.3906\/sag-1901-170","type":"journal-article","created":{"date-parts":[[2020,7,28]],"date-time":"2020-07-28T05:50:04Z","timestamp":1595915404000},"page":"1573-1579","source":"Crossref","is-referenced-by-count":0,"title":["Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development"],"prefix":"10.55730","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5315-5290","authenticated-orcid":false,"given":"\u00d6zge","family":"AKSEL KILI\u00c7ARSLAN","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1817-5290","authenticated-orcid":false,"given":"Esra","family":"ATAMAN","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6795-3012","authenticated-orcid":false,"given":"Semra","family":"G\u00dcRSOY","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6640-636X","authenticated-orcid":false,"given":"G\u00fcrkan","family":"G\u00dcRB\u00dcZ","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3611-5059","authenticated-orcid":false,"given":"Aycan","family":"\u00dcNALP","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3223-5408","authenticated-orcid":false,"given":"P\u0131nar","family":"GEN\u00c7PINAR","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5902-3501","authenticated-orcid":false,"given":"Nihal","family":"OLGA\u00c7 D\u00dcNDAR","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8846-383X","authenticated-orcid":false,"given":"Selvinaz","family":"ED\u0130ZER","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9969-203X","authenticated-orcid":false,"given":"Ayfer","family":"\u00dcLGENALP","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1455-308X","authenticated-orcid":false,"given":"\u00d6zlem","family":"G\u0130RAY BOZKAYA","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"34691","published-online":{"date-parts":[[2020,10,22]]},"container-title":["TURKISH JOURNAL OF MEDICAL SCIENCES"],"original-title":[],"deposited":{"date-parts":[[2022,6,20]],"date-time":"2022-06-20T07:23:28Z","timestamp":1655709808000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.tubitak.gov.tr\/medical\/vol50\/iss6\/11"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,22]]},"references-count":0,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2020,10,22]]}},"URL":"https:\/\/doi.org\/10.3906\/sag-1901-170","relation":{},"ISSN":["1303-6165"],"issn-type":[{"type":"electronic","value":"1303-6165"}],"subject":[],"published":{"date-parts":[[2020,10,22]]}}}