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Precision Medicine in Epilepsy Management (GET : Gene, Epilepsy, Treatment)

Designed & Developed by :

Ali A. Asadi-Pooya, M.D., Professor of Epileptology

Shiraz University of Medical Sciences, Shiraz, Iran

Thomas Jefferson University, Philadelphia, PA, USA

Declarations :

Conflicts of interest : None

Funding : None

Acknowledgement : I thank Mr. Alireza Safaeian for software development


This application is designed for healthcare professionals. The app is based on available evidence. This app is not an official guideline and the recommendations do not replace standard health care practice. Interpretation of the content and the data presented are the responsibility of the user. This app is designed to aid the prescriber, but does not substitute for that person's clinical judgment. The final decision regarding prescription of medication is the responsibility of the user. Users should have knowledge about any drug or course of action they prescribe. The user understands that this app is not a medical device .

Data entry in the app will be saved anonymously so that the app performance can be analyzed and improved. The author may choose to publish about the use of the app, and no users will be identified in any way .

How This Application Works :

GET (Gene, Epilepsy, Treatment) is an application to facilitate the decision making process for the treating physician .

When a genetic diagnosis is made and a specific gene is identified, the physician enters the gene name into the search box and the App shows whether this genetic epilepsy has a specific treatment .

To ascertain that the clinical diagnosis of the patient matches the genetic diagnosis, phenotype(s) that is associated with the identified gene is also presented .

Many treatment strategies may need consultations with other experts (endocrinologists, dieticians, etc.) .

One should remember that there are hundreds of genes that are associated with different epilepsy syndromes, but they may not affect the treatment plan beyond the typical treatments for that syndrome; these genes are not included in the current database and application .

References :

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Bayat A, Bayat M, Rubboli G, Møller RS. Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy. Genes (Basel). 2021 Jul 8;12(7):1051.

Brunklaus A, Lal D. Sodium channel epilepsies and neurodevelopmental disorders: from disease mechanisms to clinical application. Dev Med Child Neurol. 2020 Jul;62(7):784-792.

Helbig I, Ellis CA. Personalized medicine in genetic epilepsies - possibilities, challenges, and new frontiers. Neuropharmacology. 2020 Aug 1;172:107970.

Guerrini R, Balestrini S, Wirrell EC, Walker MC. Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies. Neurology. 2021 Oct 26;97(17):817-831.

Klepper J, Akman C, Armeno M, et al. Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group. Epilepsia Open. 2020 Aug 13;5(3):354-365.

Marini C, Giardino M. Novel treatments in epilepsy guided by genetic diagnosis. Br J Clin Pharmacol. 2021 Nov 15. doi: 10.1111/bcp.15139. Epub ahead of print. PMID: 34778987.

Moloney PB, Cavalleri GL, Delanty N. Epilepsy in the mTORopathies: opportunities for precision medicine. Brain Commun. 2021 Sep 25;3(4):fcab222.

Morrison-Levy N, Borlot F, Jain P, Whitney R. Early-Onset Developmental and Epileptic Encephalopathies of Infancy: An Overview of the Genetic Basis and Clinical Features. Pediatr Neurol. 2021 Mar;116:85-94.

Overwater IE, Rietman AB, van Eeghen AM, de Wit MCY. Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): current perspectives. Ther Clin Risk Manag. 2019 Jul 26;15:951-955.

Sharma P, Hussain A, Greenwood R. Precision in pediatric epilepsy. F1000Res. 2019 Feb 6;8:F1000 Faculty Rev-163. doi: 10.12688/f1000research.16494.1.

Specchio N, Pietrafusa N, Perucca E, Cross JH. New paradigms for the treatment of pediatric monogenic epilepsies: Progressing toward precision medicine. Epilepsy Behav. 2021 Apr 15:107961.

Striano P, Minassian BA. From Genetic Testing to Precision Medicine in Epilepsy. Neurotherapeutics. 2020 Apr;17(2):609-615.

Swanson LC, Ahmed R. Epilepsy Syndromes: Current Classifications and Future Directions. Neurosurg Clin N Am. 2022 Jan;33(1):113-134.

Specchio N, Ferretti A, Trivisano M, et al. Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy. Drugs. 2021 Jan;81(1):101-123.

Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA. Lafora disease - from pathogenesis to treatment strategies. Nat Rev Neurol. 2018 Oct;14(10):606-617.

Barcia G, Rio M, Assouline Z, et al. Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival. Eur J Hum Genet. 2021 Mar;29(3):533-538.

Lin Z, Sang T, Yang Y, et al. Efficacy of Anti-seizure Medications, Quinidine, and Ketogenic Diet Therapy for KCNT1-Related Epilepsy and Genotype-Efficacy Correlation Analysis. Front Neurol. 2022 Jan 18;12:834971.

D'Gama AM, Poduri A. Precision Therapy for Epilepsy Related to Brain Malformations. Neurotherapeutics. 2021 Jul;18(3):1548-1563.

Sun Y, Wan L, Yan H, Li Z, Yang G. Phenotypic and Genotypic Characterization of NPRL2-Related Epilepsy: Two Case Reports and Literature Review. Front Neurol. 2021 Nov 29;12:780799.

Canavati C, Klein KM, Afawi Z, et al. Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci. Epilepsia. 2019 Jun;60(6):e67-e73.

Dell'Isola GB, Vinti V, Fattorusso A, et al. The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation. Front Neurol. 2022 Jan 17;12:780053.

Zhao Q, Hu Y, Liu Z, et al. PRRT2 variants and effectiveness of various antiepileptic drugs in self-limited familial infantile epilepsy. Seizure. 2021 Oct;91:360-368.

Goodspeed K, Pérez-Palma E, Iqbal S, et al. Current knowledge of SLC6A1-related neurodevelopmental disorders. Brain Commun. 2020 Oct 13;2(2):fcaa170.

Xian J, Parthasarathy S, Ruggiero SM, et al. Assessing the landscape of STXBP1-related disorders in 534 individuals. Brain. 2021 Nov 23:awab327.

Search Result

Gene name :

Conflicts of interest : None

Funding : None

Acknowledgement : I thank Mr. Alireza Safaeian for software development

Phenotype :

Treatment :