Predictive factors of genetic diagnosis and real-life impact of next-generation sequencing for children with epilepsy.
Gustavo Moura da Mata Machado Ferreira PintoSolena Ziemer Kusma FidalskiMara Lúcia Schmidt Ferreira SantosJosiane de SouzaDaniel Almeida do VallePublished in: Epileptic disorders : international epilepsy journal with videotape (2023)
Facing a large proportion of patients with unexplained epilepsy have a genetic cause a genetic test has the potential to reduce the use of unnecessary diagnostic tests, improve patient outcomes by identifying targeted treatments, and provide families with genetic counseling and risk assessment. But an early genetic testing can be crucial to reach these goals. Even in cases where the genetic test is negative, the study suggests that it still has important implications for patient care and management.