A crash course in genomics for epilepsy clinicians.

🤖 Plain-English Summary

Genomics is becoming increasingly integral to epilepsy care, underscoring the need for epileptologists to develop genetic literacy. We also highlight specific genetic diagnoses with potential treatment implications.

🔑 Key Findings

• In severe epilepsies, whole exome or whole genome sequencing can identify a genetic diagnosis in up to 50% of cases.
• Although the therapeutic impact of most genetic diagnoses is currently limited, the availability of precision medicine options is expected to grow in the coming years.
• This narrative review, targeted at epilepsy clinicians, provides guidance on selecting patients for genetic testing, choosing appropriate genetic tests based on clinical phenotype, and interpreting genetic results.

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