Phenotypic manifestations between male and female children with CDKL5 mutations
JS Liang, H Huang, JS Wang, JF Lu - Brain and Development, 2019 - Elsevier
Background 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. Materials and methods Targeted next-generation DNA sequencing was
employed to search for mutations in patients with cryptogenic EE. A total of 44 patients with …
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. Materials and methods Targeted next-generation DNA sequencing was
employed to search for mutations in patients with cryptogenic EE. A total of 44 patients with …
