Research collaboration

Within the European Reference Network for Congenital malformations and Intellectual Disability, ERN ITHACA, and in collaboration with other ERNs, we plan to gather more information on this rare condition.

Aim: To gather clinical and molecular data regarding individuals with CNKSR2 variants in order to study the natural history of the disorder, genetic mechanisms and to guide best management, particularly of the seizure disorder.

Methods: Collection of data through the Nijmegen Human Genetic Disease Gene Page.

Inclusion criteria: All individuals with pathogenic variants , either copy number variants or single nucleotide variants within the CNKSR2 gene.

Timeline: The aim is to initially report all available data after a two year time period and then to continue to collect data long term so that we can gain an accurate picture of the long term features of the condition.