Recent advances in epilepsy genomics and genetic testing

F1000Res. 2020 Mar 12:9:F1000 Faculty Rev-185. doi: 10.12688/f1000research.21366.1. eCollection 2020.


Developmental and epileptic encephalopathies (DEEs) are a group of severe, early onset epilepsies characterized by refractory seizures, developmental delay or regression associated with ongoing epileptic activity, and generally poor prognosis. DEE is genetically and phenotypically heterogeneous, and there is a plethora of genetic testing options to investigate the rapidly growing list of epilepsy genes. However, more than 50% of patients with DEE remain without a genetic diagnosis despite state-of-the-art genetic testing. In this review, we discuss the major advances in epilepsy genomics that have surfaced in recent years. The goal of this review is to reach a larger audience and build a better understanding of pathogenesis and genetic testing options in DEE.

Keywords: Chromosomal microarray; Developmental and epileptic encephalopathy; Epilepsy; Gene panels; Genetic testing; Next generation sequencing; Novel genes; Whole genome sequencing.

Publication types

  • Review

MeSH terms

  • Epilepsy / diagnosis*
  • Epilepsy / genetics*
  • Genetic Testing*
  • Genomics
  • Humans

Grants and funding

The author(s) declared that no grants were involved in supporting this work.