From Genetic Testing to Precision Medicine in Epilepsy.

Area of Science:

• Genetics and Neurology
• Molecular Medicine
• Epileptology

Background:

• Epilepsy encompasses diverse syndromes with recurrent seizures, often challenging to manage due to varied responses to therapy.
• Genetic factors are identified in over half of epilepsy cases, with single gene defects linked to many inherited forms.

Purpose of the Study:

• To summarize recent advancements in genetic testing for epilepsy.
• To provide guidance on selecting appropriate genetic tests and tailored treatments for specific epileptic disorders.
• To discuss the future of precision medicine in epilepsy management.

Main Methods:

• Review of current genetic testing technologies, including whole exome and whole genome sequencing.
• Analysis of genetic discoveries and their impact on understanding epilepsy molecular mechanisms.
• Examination of precision medicine strategies for monogenic epilepsies.

Main Results:

• Genetic testing has significantly advanced epilepsy diagnosis and understanding of underlying molecular mechanisms.
• Precision medicine approaches are currently effective for a subset of monogenic epilepsies, primarily for seizure control.
• Examples include targeted treatments for Dravet syndrome, pyridoxine-dependent epilepsy, and glucose transporter 1 deficiency.

Conclusions:

• Genetic discoveries are paving the way for a large-scale precision medicine approach to epilepsy treatment.
• Future epilepsy management will likely shift from empirical methods to tailored, genetically informed therapies.
• Addressing neurodevelopmental and neuropsychiatric comorbidities remains a key challenge for future precision epilepsy care.