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Article

Practical clues for diagnosing WWOX encephalopathy.

Epileptic disorders : international epilepsy journal with videotape - 1 Sept 2017

Tarta-Arsene Oana, Barca Diana, Craiu Dana, Iliescu Catrinel

Abstract excerpt

The WW domain-containing oxidoreductase gene is implicated in autosomal recessive disorders of the central nervous system, expressed either as spinocerebellar ataxia or as a severe form with early-infantile epileptic encephalopathy. Here, we describe the electroclinical evolution of these disorders, adding new diagnostic clues based on a case study. The patient, a boy with early-onset epilepsy, presented with...

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Source

Identifiers

PMID: 28721938
DOI: 10.1684/epd.2017.0924

Genes

WWOX

Provenance

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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Practical clues for diagnosing WWOX encephalopathy.PMID 28721938Read ↗

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Severe CNS involvement in WWOX mutations: Description of five new cases.Semantic proximity Read ↗

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.Semantic proximity Read ↗

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Identification of compound heterozygous deletions in the WWOX gene caused WOREE syndrome by whole exome sequencingSemantic proximity Read ↗

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