title: Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene.
abstract: 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.
authors.affiliation: Division of Child Neurology, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey. sanem.yilmaz@ege.edu.tr.
authors.forename: Sarenur
authors.initials: S
authors.lastname: Gökben
authors.forename: Gül
authors.initials: G
authors.lastname: Serdaroğlu
authors.forename: Sanem
authors.initials: S
authors.lastname: Yılmaz
authors.forename: Thierry
authors.initials: T
authors.lastname: Bienvenu
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
mesh_terms: D058540:Aicardi Syndrome / Q000175:diagnosis* / Q000235:genetics*; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013036:Spasms, Infantile / Q000175:diagnosis* / Q000235:genetics*; D014421:Turkey
chemical_list: D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human