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[Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy]

T Wang1, M M Cheng1, W W Liu1

  • 1Neurological Department of Children's Medical Center, Peking University First Hospital, Beijing 100176, China.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics
|July 23, 2024
PubMed

Insights

Developmental and epileptic encephalopathy (DEE) linked to the WWOX gene typically begins before six months of age, presenting with focal seizures and microcephaly. This condition often results in drug-resistant epilepsy in affected children.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Context:

  • Developmental and epileptic encephalopathy (DEE) is a severe neurological disorder.
  • The WWOX gene plays a crucial role in neurodevelopment.
  • Understanding the genotype-phenotype correlation in WWOX-related DEE is essential for diagnosis and management.

Purpose:

  • To summarize the genotype and clinical phenotype of children with WWOX gene-related DEE.
  • To analyze clinical data, including gene variations, phenotypes, and outcomes, in a cohort of 12 children.
  • To identify common seizure types, developmental characteristics, and neuroimaging findings.

Summary:

  • Twelve children with WWOX-related DEE were studied, with seizure onset typically before six months, often in neonates.
  • Common features include focal seizures, epileptic spasms, microcephaly, and global developmental delay.
  • All identified WWOX variants were complex heterozygous, with several novel mutations and deletions reported.

Impact:

  • This study highlights the early onset and characteristic clinical features of WWOX-related DEE.
  • The findings emphasize the frequent drug-resistant nature of epilepsy in these patients.
  • It contributes to a better understanding of WWOX gene's role in severe early-onset epilepsy and developmental disorders.

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