Phenotypic manifestations between male and female children with CDKL5 mutations

Cyclin-dependent kinase-like 5 (CDKL5), which maps to chromosome Xp22.13 and contains 20 coding exons, has been recognized as the gene responsible for early-onset epileptic encephalopathy (EoEE). A retrospective study is carried out to analyze potential genotypic and phenotypic differences between male and female patients with CDKL5 mutations.

Source: Brain and Development - May 19, 2019 Category: Neurology Authors: Jao-Shwann Liang, Hsin Huang, Jinn-Shyan Wang, Jyh-Feng Lu Tags: Original article Source Type: research