Early onset epileptic encephalopathy caused by novel compound heterozygous mutation of WWOX gene

The human WW domain containing oxidoreductase ( WWOX ) gene has been identified as a tumor suppressor gene. However, recent reports have demonstrated its dominant role in autosomal recessive disorders of the central nervous system, especially in early onset epileptic encephalopathy. Here, we report a Chinese case with novel compound heterozygous mutation of WWOX gene (c.229_230+2del mutation originated from her mother and c.1065dup...