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Molecular, DNA and atom model in science

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.

The resultant syndromes are known as SCAR12 (Spinocerebellar Ataxia-12) and EIEE28 (Early Infantile Epileptic Encephalopathy-28) or WOREE syndrome (WWOX-related Epileptic Encephalopathy). 

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.

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