Genetic diagnosis in neonatal-onset epilepsies: Back to the future

Abstract

Seizures are more frequent in newborns than in any other period of life. In most cases they are due to acute dysfunction of the central nervous system; however some can be true epileptic disorders with an early onset. Although rare, diagnosis of neonatal-onset epilepsies is rising as genetic testing increases. The spectrum of clinical severity associated with specific genes can vary widely with difficulties in providing genotype-phenotype correlations. Therefore, clinicians should strive in order to clearly delineate the clinical features associated with pathogenic genetic variants with the aim to guide the increasing use of genetic testing and improve clinical management.

Keywords: Epilepsy; Neonatal seizures; Newborns.