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Article

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

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Dec 2019

Yang Chengqing, Zhang Ying, Song Zhenfeng, Yi Zhi, Li Fei

Abstract excerpt

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...

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PMID: 31669195
DOI: 10.1016/j.ijdevneu.2019.10.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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