Early onset epileptic encephalopathy caused by novel compound heterozygous mutation of WWOX Gene,International Journal of Developmental Neuroscience

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Early onset epileptic encephalopathy caused by novel compound heterozygous mutation of WWOX Gene
International Journal of Developmental Neuroscience ( IF 1.7 ) Pub Date : 2020-02-25 , DOI: 10.1002/jdn.10013
Tangfeng Su ₁ , Yu Yan ₂ , Shuang Xu ₁ , Ke Zhang ₁ , Sanqing Xu ₁

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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 (p.Ala356Serfs*173) variation from her father), and compare them to previously reported 59 WWOX‐related epileptic encephalopathy (WOREE). Early onset and frequent epileptic seizures in the postnatal period, hypsarrhythmia patterns in EEG background and retarded development are the most important characteristics of WOREE in infants. Although the seizures in our case can be controlled by phenobarbital and topiramate, the prognosis of WOREE is poor.

更新日期：2020-02-25

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