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article · Epilepsia Open

Exome sequencing in Nigerian children with early‐onset epilepsy syndromes

20243 citationsOpen accessMakerere University

Abstract

This study represents the first published exome findings in Nigerian children with early-onset epilepsy, revealing a genetic diagnosis in 27% of cases. Pathogenic variants were identified in five genes amongst 6 of 22 patients, underscoring the potential of genetic testing to enhance epilepsy management in developing nations like Nigeria.

Research topics

  • Genomics and Rare Diseases
  • Genetics and Neurodevelopmental Disorders
  • Genomic variations and chromosomal abnormalities

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DOI: 10.1002/epi4.13106

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