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<p>Epilepsy is a group of neurological conditions characterized by epileptic seizures, which are episodes that may vary from brief and nearly undetectable to long periods of vigorous shaking. Due to high rates of close family marriages (consanguinity) in the Pakistani population, families with multiple affected individuals showing novel or known epilepsy phenotypes are likely to present. The present study aimed to identify the genetic causes of epileptic conditions (isolated or syndromic) in selected families. For this purpose, five families (A-E) with multiple affected individuals showing a form of epilepsy were recruited after thorough clinical investigations. Next Generation Sequencing (NGS) based gene panel testing was applied to identify the pathogenic variants in these families. DNA samples of one affected individual from each family were sent to a renowned genetic testing lab (Invitae, USA) for Epilepsy Comprehensive Gene Panel Testing. Bioinformatics (SIFT, PolyPhen2) tools were used to validate the pathogenicity of identified mutations. We identified five previously reported mutations in these five families; all of them were predicted to be pathogenic by bioinformatics analysis. The findings would certainly help enhance our understanding regarding the etiology of inherited epilepsies and would facilitate genetic counseling and clinical management in these families.</p>

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Identification of mutations in five Pakistani families with Epilepsy

  • 期刊论文

  • 发表日期：

    2025年5月19日

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  • Nayab Ahsan,
  • Arsalan Ahmad,
  • Shahnawaz Hussain,
  • Nasreen Fatima,
  • Imran Khan Yousafzai,
  • Umm-e- Kalsoom,
  • Rubina Dad,
  • Muhammad Jawad Hassan

摘要

Epilepsy is a group of neurological conditions characterized by epileptic seizures, which are episodes that may vary from brief and nearly undetectable to long periods of vigorous shaking. Due to high rates of close family marriages (consanguinity) in the Pakistani population, families with multiple affected individuals showing novel or known epilepsy phenotypes are likely to present. The present study aimed to identify the genetic causes of epileptic conditions (isolated or syndromic) in selected families. For this purpose, five families (A-E) with multiple affected individuals showing a form of epilepsy were recruited after thorough clinical investigations. Next Generation Sequencing (NGS) based gene panel testing was applied to identify the pathogenic variants in these families. DNA samples of one affected individual from each family were sent to a renowned genetic testing lab (Invitae, USA) for Epilepsy Comprehensive Gene Panel Testing. Bioinformatics (SIFT, PolyPhen2) tools were used to validate the pathogenicity of identified mutations. We identified five previously reported mutations in these five families; all of them were predicted to be pathogenic by bioinformatics analysis. The findings would certainly help enhance our understanding regarding the etiology of inherited epilepsies and would facilitate genetic counseling and clinical management in these families.