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Article

Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene.

Molecular genetics & genomic medicine - 1 Aug 2024

You Yang, Wu Wenjuan, Du Yakun, Hu Jintong, Li Baoguang

Abstract excerpt

BACKGROUND: Variations in the WWOX gene have been identified as the leading cause of several central nervous system disorders. However, most previous reports have focused on the description of clinical phenotype, neglecting functional verification. Herein, we presented a case of a patient with developmental epileptic encephalopathy (DEE) caused by WWOX gene variation. CASE PRESENTATION: Our patient was a...

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Identifiers

PMID: 39101447
DOI: 10.1002/mgg3.2500
PMCID: PMC11298992

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Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene.PMID 39101447Read ↗

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Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.Semantic proximity Read ↗

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

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