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


GÖKBEN S., Serdaroğlu G., Yılmaz S., Bienvenu T., CEYLANER S.

Turkish Journal of Pediatrics, vol.57, no.3, pp.272-276, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 57 Issue: 3
  • Publication Date: 2015
  • Journal Name: Turkish Journal of Pediatrics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.272-276
  • Keywords: Rett syndrome-like features, cyclin-dependent kinase-like 5 gene, infantile spasm, epileptic encephalopathy, RETT-SYNDROME, CLASSIFICATION, GIRLS
  • Lokman Hekim University Affiliated: No

Abstract

© 2015, Turkish Journal of Pediatrics. All rights reserved.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.