A crash course in genomics for epilepsy clinicians

Area of Science:

• Neurogenetics
• Epilepsy Genetics

Background:

• Genomics is increasingly vital in epilepsy management.
• Genetic literacy is essential for epileptologists.
• Whole exome/genome sequencing aids diagnosis in severe epilepsies.

Purpose of the Study:

• Provide guidance for epilepsy clinicians on genetic testing.
• Inform selection of patients and appropriate genetic tests.
• Highlight genetic diagnoses with treatment implications.

Main Methods:

• Narrative review of current genomics applications in epilepsy.
• Focus on patient selection, test choice, and result interpretation.
• Discussion of specific genetic diagnoses and emerging technologies.

Main Results:

• Genetic diagnosis achieved in up to 50% of severe epilepsy cases via sequencing.
• Limited current therapeutic impact of most genetic diagnoses.
• Growing availability of precision medicine options.

Conclusions:

• Genomic testing is integral to modern epilepsy care.
• Clinicians need guidance on utilizing genetic information effectively.
• Emerging genomic applications will further advance epilepsy management.