Article

Compound heterozygous deletions of the WWOX gene caused a WOREE syndrome associated with severe epileptic encephalopathy

2022-06-06

Abstract excerpt

Recent studies showed that germline, bi-allelic and pathogenic variants of the WWOX gene have been associated with spinocerebellar ataxia type 12 (SCAR12) and a severe WWOX-related epileptic encephalopathy (WOREE syndrome). The underlying mechanisms of the diseases are poorly understood. Here, we reported the case of a WOREE syndrome patient with early-onset refractory seizures and global neurodevelopmental delay...

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Literature Corpus work: c13904e8-d013-59b7-be46-fb451736f8a6
DOI: 10.21203/rs.3.rs-1682290/v1

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