Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene
Makaleler > Tam Makale · 2015
Yazarlar: SARENUR GÖKBEN, Gül Serdaroğlu, Sanem KESKİN YILMAZ, Thierry Bienvenu, Serdar Ceylaner
The Turkish Journal of Pediatrics, Uluslararası, Wos, 2015, cilt 57, ss 272-276
DOI: 10.24953/turkjpediatr.2015.1236
Özet
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.