Abstract

The X-linked gene Cyclin-Dependent Kinase-Like 5 (CDKL5) is located on the short arm of human chromosome X (Xp22.13). Pathologic mutations in the CDKL5 gene associated with severe epilepsy and cognitive, motor, visual, and autonomic disturbances et al [1]. The aim of the present study was to detect and report genetic causes of a 6-month-old Chinese female with epilepsy. The patient was found to have a frameshift mutation (c.1592dupC p. Thr531fs) in the CDKL5 gene and the mutation does not exist in either of her healthy mother or father. The de-novo mutation in the CDKL5 gene has not been reported in previous studies.