Since they described the entity of KCNQ2-DEE in 2012, the research team of Professor Dr. Sarah Weckhuysen has a specific interest in the study of KCNQ2-related disorders. Along with fundamental research into the mechanisms of KCNQ2-DEE, the group is aiming to dissect genotype-phenotype correlations and describe the natural disease evolution. One of the ongoing research projects aims to study genetic and environmental modifiers associated with KCNQ2-related disorders:
Aim: We hypothe that some of the phenotypic variability in KCNQ2-related disorders can be explained by the existence of genetic and environmental modifiers. By identifying these modifiers, we hope to improve counseling for individual patients, and to identify biological pathways that can be targeted by novel disease-modifying treatment strategies.
Methods: In this study, all patients with a proven pathogenic KCNQ2 variant can be included after signature of an informed consent document. Detailed clinical data will be collected on all participants through their treating (child) neurologist, in addition to a DNA aliquot from all participants. All samples will be pseudonymized and stored in the VIB-CMN Biobank at the University of Antwerp, Belgium. Corresponding clinical data will also be stored in a pseudonymized way on the secured VIB departmental server.
Contact for more information: sarah.weckhuysen@uantwerpen.vib.be
KCNQ2