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Abstract <p>Developmental and epileptic encephalopathy (DEE) encompasses severe epilepsies with early-onset seizures, typically within the first year of life. Genetic analysis is pivotal for early diagnosis and management. This study explores DEE’s clinical manifestations and genetic underpinnings in children. A group of 25 patients diagnosed with DEE underwent Whole Exome Sequencing (WES) facilitated by the University College London (UCL) following the provision of consent. The analysis involved a thorough examination of clinical data and genetic profiles to identify pathogenic variants. Pathogenicity of all the variants has been checked through InterVar, and ClinVar. After the WES, a total of 22 variants were found, from which seven were novel (c.215G&gt;A, c.72del, c.423dup, c.1146_1171dup, c.1087T&gt;C, c.298_307del, and c.2597del) and fifteen were previously reported pathogenic or likely pathogenic variants. Three mutations have been observed in duplicates (c.311G&gt;A, c.1087T&gt;C, c.739_745del). The study underscores DEE’s diverse phenotypes, providing insights into its broad clinical spectrum and genetic factors. It enhances diagnostic strategies, advances disease understanding, and may guide personalized treatments for affected children.</p>

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Phenotypic and Genotypic Landscape of Epileptic Encephalopathies in Children with Seven Novel Variants: A Single Tertiary Care Hospital Experience

  • 期刊论文

  • 发表日期：

    2025年6月1日

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  • Iram Javed,
  • Haq Nawaz Khan,
  • Tipu Sultan,
  • Muhammad Wasim

摘要

Abstract

Developmental and epileptic encephalopathy (DEE) encompasses severe epilepsies with early-onset seizures, typically within the first year of life. Genetic analysis is pivotal for early diagnosis and management. This study explores DEE’s clinical manifestations and genetic underpinnings in children. A group of 25 patients diagnosed with DEE underwent Whole Exome Sequencing (WES) facilitated by the University College London (UCL) following the provision of consent. The analysis involved a thorough examination of clinical data and genetic profiles to identify pathogenic variants. Pathogenicity of all the variants has been checked through InterVar, and ClinVar. After the WES, a total of 22 variants were found, from which seven were novel (c.215G>A, c.72del, c.423dup, c.1146_1171dup, c.1087T>C, c.298_307del, and c.2597del) and fifteen were previously reported pathogenic or likely pathogenic variants. Three mutations have been observed in duplicates (c.311G>A, c.1087T>C, c.739_745del). The study underscores DEE’s diverse phenotypes, providing insights into its broad clinical spectrum and genetic factors. It enhances diagnostic strategies, advances disease understanding, and may guide personalized treatments for affected children.