Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene
Küçük Resim Yok
Tarih
2015
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Turkish J Pediatrics
Erişim Hakkı
info:eu-repo/semantics/closedAccess
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.
Açıklama
Anahtar Kelimeler
Rett syndrome-like features, cyclin-dependent kinase-like 5 gene, infantile spasm, epileptic encephalopathy
Kaynak
Turkish Journal of Pediatrics
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
57
Sayı
3
