Advancements in Personalized Medicine for Epilepsy: Tailoring Treatments to Individual Genotypes

Markus Hirshman^*
*Correspondence: Markus Hirshman, Department of Psychiatry & Neuroscience, UC Riverside School of Medicine, 900 University Ave. Riverside, USA, Email:

Keywords

Epilepsy • Neurological disorder • Personalized medicine

Introduction

Personalized medicine leverages genetic, environmental and lifestyle information to tailor medical care to the individual. For epilepsy, this approach aims to optimize treatment efficacy, minimize side effects and address the underlying genetic causes of the disorder. This shift is particularly significant given the considerable variability in how individuals respond to AEDs and the broad spectrum of genetic mutations associated with epilepsy. Recent advances in personalized medicine are shaping the future of AED therapy. By analyzing genetic and pharmacogenomic data, clinicians can better predict how individual patients will respond to specific AEDs. This approach aims to maximize treatment efficacy and minimize adverse effects by selecting the most appropriate drug based on the patient’s unique genetic profile [1,2].

Literature Review

Epilepsy is a heterogeneous condition with numerous genetic underpinnings. Advances in genomic technologies, including next-generation sequencing (NGS), have enabled the identification of specific genetic mutations associated with different forms of epilepsy. Mutations in genes encoding ion channels, such as SCN1A, KCNQ2 and GABRG2, are linked to various epilepsy syndromes. These genes play crucial roles in neuronal excitability and synaptic transmission. For example, SCN1A mutations are commonly associated with Dravet syndrome, a severe form of epilepsy. Certain genetic mutations are associated with specific epilepsy syndromes, such as the PCDH19 mutation in PCDH19-related epilepsy. Identifying these mutations allows for more targeted treatment approaches. Some genetic mutations are associated with both epilepsy and other neurological or developmental disorders. For instance, mutations in the MECP2 gene are linked to Rett syndrome, which can include epilepsy among its symptoms.

Understanding a patient's specific genetic profile enables clinicians to select AEDs that are more likely to be effective while minimizing adverse effects. This field studies how genes affect an individual’s response to drugs. For epilepsy, pharmacogenomic testing can help predict which AEDs are likely to be effective based on genetic variants. For example, genetic variations in the CYP450 enzyme system can influence how drugs are metabolized, affecting both efficacy and toxicity. Certain genetic mutations may predict sensitivity or resistance to specific AEDs. For instance, patients with SCN1A mutations might respond differently to sodium channel blockers compared to those without such mutations [3,4]. Personalized medicine allows for selecting drugs that are more likely to align with the patient’s genetic profile. Beyond traditional AEDs, targeted therapies are being developed to address specific genetic abnormalities.

Discussion

For instance, gene therapies and antisense oligonucleotides are being explored as treatments for genetic forms of epilepsy, offering the potential to correct or compensate for genetic defects. Epilepsy is often caused by multiple genetic factors interacting with each other and with environmental influences. This complexity can make it challenging to pinpoint exact genetic causes and predict treatment responses. Genetic testing and personalized treatments can be expensive and may not be accessible to all patients [5,6]. Ensuring equitable access to these advancements is a critical concern. While the potential is immense, integrating genetic findings into everyday clinical practice requires ongoing research, education and the development of guidelines to ensure that personalized approaches are implemented effectively.

Conclusion

The advancements in personalized medicine for epilepsy represent a transformative leap forward in how we approach the treatment of this complex disorder. By tailoring treatments to individual genotypes, we are moving toward a future where epilepsy management is more precise, effective and aligned with each patient’s unique genetic profile. As research continues and technology evolves, the hope is that personalized medicine will bring us closer to a world where every patient with epilepsy receives the best possible care tailored specifically to their needs.

Acknowledgement

None.

Conflict of Interest

None.

References

1. Berg, Anne T., Samuel F. Berkovic, Martin J. Brodie and Jeffrey Buchhalter, et al. "Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE commission on classification and terminology, 2005–2009." (2010): 676-685.

   Google Scholar, Crossref, Indexed at

2. Engel, Jerome. "A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: Report of the ILAE task force on classification and terminology."Epilepsia (Series 4)42 (2001).

   Google Scholar, Crossref, Indexed at

3. Scheffer, Ingrid E. and Jianxiang Liao. "Deciphering the concepts behind “Epileptic encephalopathy” and “Developmental and epileptic encephalopathy”."Eur J Paediatr Neurol24 (2020): 11-14.

   Google Scholar, Crossref, Indexed at

4. Scheffer, Ingrid E., Samuel Berkovic, Giuseppe Capovilla and Mary B. Connolly, et al. "ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology."Epilepsia58 (2017): 512-521.

   Google Scholar, Crossref, Indexed at

5. Palmer, Elizabeth E., Katherine Howell and Ingrid E. Scheffer. "Natural history studies and clinical trial readiness for genetic developmental and epileptic encephalopathies."Neurother 18 (2021): 1432-1444.

   Google Scholar, Crossref, Indexed at

6. Symonds, Joseph D. and Amy McTague. "Epilepsy and developmental disorders: Next generation sequencing in the clinic."Eur J Paediatr Neurol24 (2020): 15-23.

   Google Scholar, Crossref, Indexed at