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, cilt.57, sa.3, ss.272-276, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 57 Sayı: 3
  • Basım Tarihi: 2015
  • Dergi Adı: Turkish Journal of Pediatrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.272-276
  • Anahtar Kelimeler: Rett syndrome-like features, cyclin-dependent kinase-like 5 gene, infantile spasm, epileptic encephalopathy, RETT-SYNDROME, CLASSIFICATION, GIRLS
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

© 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.