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Article

W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report.

BMC medical genetics - 5 Aug 2016

Elsaadany Loai, El-Said Mahmoud, Ali Rehab, Kamel Hussein, Ben-Omran Tawfeg

Abstract excerpt

BACKGROUND: WW domain containing oxidoreductase (WWOX) gene was cloned in 2000; alteration has been seen in many cancer cells. It acts as a tumor suppresser by blocking cell growth and causing apoptosis. WWOX protein showed different expression of mice brain and spinal cord, for which deletion causes seizure and early death. CASE PRESENTATION: Clinical and molecular characteristics of a consanguineous family show...

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Source

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Identifiers

PMID: 27495153
DOI: 10.1186/s12881-016-0317-z
PMCID: PMC4975905

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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W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report.PMID 27495153Read ↗

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