The Turkish Journal of Pediatrics 2015 , Vol 57 , Num 3
Turkish Cases of Early Infantile Epileptic Encephalopathy: Two Novel Mutations in the Cyclin-Dependent Kinase-Like 5 (CDKL5) Gene
1Division of Child Neurology, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey, 2Laboratoire de Biochimie et Génétique Moléculaire, Hopital Cochin, and Université Paris Descartes, Labex Who am I, Inserm U1016, Institut Cochin, Paris, France, and 3Intergen Genetics Centre, Ankara, Turkey.
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. Keywords : Rett syndrome-like features, cyclin-dependent kinase-like 5 gene, infantile spasm, epileptic encephalopathy.
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