Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy.
Savaş BarişSerkan KırıkÖzgür BalasarPublished in: Revista da Associacao Medica Brasileira (1992) (2023)
Although the development of gene panels aids in diagnosis, there are still unidentified disorders in this illness category, which is highly variable in genotype and phenotype. Understanding the genetic etiology is vital for genetic counseling and, maybe, the future development of remedies for the etiology.