Genetic epileptic encephalopathies with onset in the first 4 years of life

Abstract

Epileptic and developmental encephalopathies have an impact on the neurodevelopment of the pediatric population, so precision medicine makes imperative the etiology through genetic identification. The general objective of this retrospective descriptive observational clinical study, with an associative component, is to evaluate the association between epileptic encephalopathies and genetic mutations in a group of patients attending the neuropediatrics department of the Centro Médico Docente La Trinidad. Family history, clinical, genetic, pharmacological, electroencephalogram and neuroimaging data experienced by patients in the first 4 years of life, diagnosed and followed up at Centro Médico Docente La Trinidad were evaluated. Fifteen patients (7 with pathogenic variants, 2 with probably pathogenic variant and 6 with variants of uncertain significance) were included by exome sequencing. We found a higher percentage associated with debut with focal-onset clonic seizures and anti-seizure medications resistance in their follow-up. The major neurological examination finding was muscle tone disorders (hypotonia), with a total sample presenting global developmental delay. Early onset genetic epilepsies demonstrate a very broad phenotypic and genotypic spectrum, so the clinical and genetic recognition of this entity facilitates the management and early evolution of epilepsy.