WWOX is an abbreviation of the name of an enzyme and associated gene called “WW domain containing oxidoreductase” located on Chromosome 16 at band 16q23.1-q23.2.
An extremely rare recessive mutation of the WWOX gene causes a deficiency of this enzyme which has a severe impact on brain development.
Children affected by WOREE syndrome display the following symptoms in varying severity: refractory epilepsy, profound global delay and severe cognitive impairment. Most children will not live through to adulthood with an average life expectancy of 4 years. At present there is no cure, but it is our aim to change that.
The resultant syndromes are known as SCAR12 (Spinocerebellar Ataxia-12) and EIEE28 (Early Infantile Epileptic Encephalopathy-28) or WOREE syndrome (WWOX-related Epileptic Encephalopathy).