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Article

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

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Apr 2020

Su Tangfeng, Yan Yu, Xu Shuang, Zhang Ke, Xu Sanqing

Abstract excerpt

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...

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Identifiers

PMID: 32037574
DOI: 10.1002/jdn.10013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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