Personalized Medicine Using Cutting Edge Technologies for Genetic Epilepsies

Title:Personalized Medicine Using Cutting Edge Technologies for Genetic Epilepsies

Volume: 19 Issue: 6

Author(s): Sheila Garcia-Rosa, Bianca de Freitas Brenha, Vinicius Felipe da Rocha, Ernesto Goulart and Bruno Henrique Silva Araujo*

Affiliation:

• Brazilian Biosciences National Laboratory (LNBio), Center for Research in Energy and Material (CNPEM), Campinas, SP,Brazil

Keywords: Genetic epilepsy, brain organoids, transcriptome, single-cell sequencing, pharmacogenomics, drug resistance, drug development, antiepileptic drugs.

Abstract: Epilepsy is the most common chronic neurologic disorder in the world, affecting 1-2% of the population. Besides, 30% of epilepsy patients are drug-resistant. Genomic mutations seem to play a key role in its etiology and knowledge of strong effect mutations in protein structures might improve prediction and the development of efficacious drugs to treat epilepsy. Several genetic association studies have been undertaken to examine the effect of a range of candidate genes for resistance. Although, few studies have explored the effect of the mutations into protein structure and biophysics in the epilepsy field. Much work remains to be done, but the plans made for exciting developments will hold therapeutic potential for patients with drug-resistance. In summary, we provide a critical review of the perspectives for the development of individualized medicine for epilepsy based on genetic polymorphisms/mutations in light of core elements such as transcriptomics, structural biology, disease model, pharmacogenomics and pharmacokinetics in a manner to improve the success of trial designs of antiepileptic drugs.

Cite this article as:

Garcia-Rosa Sheila , de Freitas Brenha Bianca , da Rocha Felipe Vinicius , Goulart Ernesto and Silva Araujo Henrique Bruno *, Personalized Medicine Using Cutting Edge Technologies for Genetic Epilepsies, Current Neuropharmacology 2021; 19 (6) . https://dx.doi.org/10.2174/1570159X18666200915151909