CSNK2A1 Foundation

CSNK2A1 Foundation

Okur-Chung neurodevelopmental syndrome (OCNDS) is an ultra-rare genetic syndrome caused by changes (variants or mutations) in the CSNK2A1 gene. These gene variants cause symptoms that affect individuals differently. Common symptoms include speech and motor delays, intellectual disabilities, behavioral challenges, sleep issues and other neurological problems. There are no known treatments or cures for OCNDS, so treatment is focused on symptom management. Most often, this gene change happens spontaneously and is not inherited, however, patients have been reported who have inherited a CSNK2A1 gene variant from a parent. OCNDS follows an autosomal dominant inheritance pattern. Symptoms include developmental delay/intellectual disability, generalized hypotonia, speech delay, seizures (ranging from single events to intractable epilepsy), slow growth/short stature, autism and behavioral challenges. The Foundation is the only patient advocacy group dedicated to OCNDS. We offer pilot research grants and a research toolbox including 3 mouse models, 9 iPSC lines, 4 fibroblast lines, and genetic/phenotypic data through Simons Searchlight.

Patient Advocacy Group