Novel compound heterozygous mutations in the WWOX gene cause early infantile epileptic encephalopathy

Defects of WW domain‐containing oxidoreductase (WWOX) has been associated with autosomal recessive spinocerebellar ataxia type 12 (SCAR12) and severe early‐onset epileptic encephalopathy. The mutations in this gene can lead to global developmental delay, acquired microcephaly, and epilepsy. We report an infant with an autosomal recessive severe early‐onset epileptic encephalopathy. Whole exome sequencing analysis was applied to the patient....