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.
