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Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
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Holistic Exome-Based Genetic Testing in Adults With Epilepsy.

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Holistic exome sequencing (ES) in adults with epilepsy achieved a 30.2% diagnostic yield, surpassing gene panels. This genetic testing approach identified new epilepsy causes and informed treatment decisions.

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Area of Science:

  • Genetics
  • Neurology
  • Epilepsy Research

Background:

  • Exome sequencing (ES) is established for pediatric epilepsy diagnosis.
  • The diagnostic utility of ES in adult epilepsy remains less defined.
  • This study investigates a comprehensive exome-based approach for adult epilepsy.

Purpose of the Study:

  • To evaluate the diagnostic outcomes of holistic exome sequencing in adults with epilepsy.
  • To compare the diagnostic yield of ES with comprehensive gene panels.
  • To identify novel genetic etiologies and expand known epilepsy gene phenotypes.

Main Methods:

  • 106 adults with epilepsy and presumed genetic etiology underwent diagnostic exome sequencing.
  • Analyses included copy number variation (CNV) and mitochondrial DNA.
  • Outcomes were compared against three simulated comprehensive gene panels.

Main Results:

  • A 30.2% diagnostic yield was achieved, exceeding all simulated gene panels.
  • Developmental and epileptic encephalopathy phenotypes were associated with genetic diagnoses.
  • Twenty-seven distinct molecular etiologies were identified, including pathogenic CNVs and mitochondrial DNA variants. Clinical implications led to treatment changes in 15.6% of solved cases. Phenotype expansions for three genes and a potential new candidate gene (CLASP1) were reported.

Conclusions:

  • Holistic exome sequencing, including CNV and mitochondrial analyses, is strongly supported for adult epilepsy diagnosis.
  • Genetic findings can inform clinical management, similar to pediatric cases.
  • This approach facilitates phenotype expansion and candidate gene discovery in adult epilepsy.