This website provides information on patients with mutations in the CNKSR2 gene, including clinical data, molecular data, management and research options.
CNKSR2 (connector enhancer of KSR2) is a synaptic protein which is involved in neurodevelopment through Ras signalling-mediated pathways.
The syndrome caused by mutations in the CNKSR2 gene is an X-linked disorder characterized by developmental delay, intellectual disability, impaired or absent speech and epilepsy. It is sometimes referred to as X-linked intellectual disability, Houge type. This condition is one of the group of epilepsy-aphasia spectrum disorders which range from severe epileptic encephalopathy with continuous spike-and-wave during sleep syndrome (ECSWS) and Landau-Kleffner syndrome (LKS), to the milder childhood epilepsy with centrotemporal spikes (CECTS). Individuals with genetic abnormalities involving CSNKR2 have seizures and neurodevelopmental impairment, with language being particularly adversely affected. As is common in X-linked disorders, the condition typically affects boys although girls may have some milder features.
This website was created to share and collect information about the clinical features of the disorder, it’s management and related research projects in order to gather more knowledge and provide better treatment of patients with mutations in the CNKSR2 gene.
Jill Clayton-Smith, MB, ChB, MD, FRCP, Manchester Centre For Genomic Medicine, United Kingdom, Jill.Clayton-Smith@mft.nhs.uk
Rebecca Sayer, MB, ChB, Manchester Centre For Genomic Medicine, United Kingdom, Rebecca.Sayer@mft.nhs.uk