Personalized Medicine in Genetic Epilepsy
Abstract number :
3.33
Submission category :
4. Clinical Epilepsy / 4C. Clinical Treatments
Year :
2024
Submission ID :
650
Source :
www.aesnet.org
Presentation date :
12/9/2024 12:00:00 AM
Published date :
Authors :
Presenting Author: Hanin Alsini, MD – University of Calgary, Canada. King Fahad Armed Forces Hospital.
Hanan Baarmah, MD – King Fahad Armed Forces Hospital
Adeeb Khawaji, MD – King Fahad Armed Forces Hospital
Brahim Tabarki, MD – PSMMC
Osama Muthaffar, MD – King Abdulaziz University
Rationale: Epilepsy is a chronic neurological disorder that affect millions of people worldwide and pose challenges to healthcare systems and quality of life. Recent genomic research has reported a strong contribution of genetic factors to the development of epilepsy, stimulating precision medicine as a potential way to treat epilepsy. The present systematic review aims to provide a summary of the findings regarding precision medicine in genetic epilepsies.
Methods: The research employs a systematic literature review based on the PRISMA guidelines. The comprehensive research was conducted on databases such as Medline, and PubMed. Boolean operator searches were executed using relevant keywords to find studies reporting on precision therapies in genetic epilepsy and describing outcomes regarding the frequency and severity of the seizures. Studies were chosen based on the predetermined eligibility criteria and the research question, the data was extracted and synthesized, and the meta-analysis evaluating the outcomes of the seizures and the effectiveness of personalized medicines was executed.
Results: Ten studies were included in the systematic review. They described genetic epilepsies with diverse affected genes and genetic variants. Precision therapy includes pharmacological therapies such as anti-seizure medications, drug repurposing, vitamins and cofactors, non-pharmacological treatments such as VNS, ketogenic diet, and epilepsy surgeries, and gene targeted therapies. The outcomes of seizures varied, with some patients experiencing a significant decrease in the frequency and severity of the seizures, while other cases observed a limited response to the treatment, including refractoriness. The best response of the patients with KCNT1 mutations, whose seizure reduction rate was above 70%.
Conclusions: Precision medicine shows promise in optimizing the treatment of genetic epilepsies and improving the outcomes of seizure control and development. This shift towards proactive and individualized care improves health outcomes and enhances the quality of individuals with genetic epilepsy.
Funding: No funding was received
Clinical Epilepsy