Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene

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dc.contributor.authorGokben, Sarenur
dc.contributor.authorSerdaroglu, Gul
dc.contributor.authorYilmaz, Sanem
dc.contributor.authorBienvenu, Thierry
dc.contributor.authorCeylaner, Serdar
dc.date.accessioned2019-10-27T22:26:59Z
dc.date.available2019-10-27T22:26:59Z
dc.date.issued2015
dc.departmentEge Üniversitesien_US
dc.description.abstractCyclin-dependent kinase-like 5 gene-related epileptic encephalopathy is gradually becoming better known in child neurology practice. The related gene mutations cause early infantile epileptic encephalopathy characterized by intractable epilepsy, severe mental retardation and, later, the development of Rett syndrome-like features. Herein, we report the first two Turkish cases of cyclin-dependent kinase-like 5 gene-related epileptic encephalopathy with novel mutations in exon 8, which is located in the catalytic domain of the gene.en_US
dc.identifier.endpage276en_US
dc.identifier.issn0041-4301
dc.identifier.issue3en_US
dc.identifier.pmid26701947en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage272en_US
dc.identifier.urihttps://hdl.handle.net/11454/50526
dc.identifier.volume57en_US
dc.identifier.wosWOS:000367571800011en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTurkish J Pediatricsen_US
dc.relation.ispartofTurkish Journal of Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectRett syndrome-like featuresen_US
dc.subjectcyclin-dependent kinase-like 5 geneen_US
dc.subjectinfantile spasmen_US
dc.subjectepileptic encephalopathyen_US
dc.titleTurkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) geneen_US
dc.typeArticleen_US

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