Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene
Cyclin-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 devel...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2015-06-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/1236 |
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| _version_ | 1849705812428062720 |
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| author | Sarenur Gökben Gül Serdaroğlu Sanem Yılmaz Thierry Bienvenu Serdar Ceylaner |
| author_facet | Sarenur Gökben Gül Serdaroğlu Sanem Yılmaz Thierry Bienvenu Serdar Ceylaner |
| author_sort | Sarenur Gökben |
| collection | DOAJ |
| description |
Cyclin-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.
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| format | Article |
| id | doaj-art-36b4eae7eda3433da7e2ede4249b6826 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2015-06-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-36b4eae7eda3433da7e2ede4249b68262025-08-20T03:16:22ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212015-06-01573Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) geneSarenur Gökben0Gül SerdaroğluSanem YılmazThierry BienvenuSerdar CeylanerDivision of Child Neurology, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey. sanem.yilmaz@ege.edu.tr. Cyclin-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. https://turkjpediatr.org/article/view/1236 |
| spellingShingle | Sarenur Gökben Gül Serdaroğlu Sanem Yılmaz Thierry Bienvenu Serdar Ceylaner Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene The Turkish Journal of Pediatrics |
| title | Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene |
| title_full | Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene |
| title_fullStr | Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene |
| title_full_unstemmed | Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene |
| title_short | Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene |
| title_sort | turkish cases of early infantile epileptic encephalopathy two novel mutations in the cyclin dependent kinase like 5 cdkl5 gene |
| url | https://turkjpediatr.org/article/view/1236 |
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