Severity Assessment in CDKL5 Deficiency Disorder.

ABSTRACT:

Background

Pathologic mutations in cyclin-dependent kinase-like 5 cause CDKL5 deficiency disorder, a genetic syndrome associated with severe epilepsy and cognitive, motor, visual, and autonomic disturbances. This disorder is a relatively common genetic cause of early-life epilepsy. A specific severity assessment is lacking, required to monitor the clinical course and needed to define the natural history and for clinical trial readiness.

Methods

A severity assessment was developed based on clinical and research experience from the International Foundation for CDKL5 Research Centers of Excellence consortium and the National Institutes of Health Rett and Rett-Related Disorders Natural History Study consortium. An initial draft severity assessment was presented and reviewed at t

SUBMITTER: Demarest S 

PROVIDER: S-EPMC6659999 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature