Germline mutations in theWW domain containing oxidoreductase (WWOX) gene have been recently associated with early-onset childhood epilepsy and ataxia. According to the nature of the mutations, we can distinguish between two main forms of the disease:
- EIEE28 for Early Infantile Epileptic Encephalopathy-28 also known as WOREE for WWOX-related Epileptic Encephalopathy that results due to a sever loss of function mutation of WWOX (such as non-sense and partial or complete deletion).
- SCAR12 for Spinocerebellar Ataxia-12 which is associated with milder loss of function, usually a subtle missense mutation.
Both diseases are autosomal recessive disorders.