DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHIES: FROM GENETIC HETEROGENEITY TO PHENOTYPIC CONTINUUM

Renzo Guerrini, Valerio Conti, Massimo Mantegazza, Simona Balestrini, Aristea S. Galanopoulou, Fabio Benfenati

Research output: Contribution to journalReview articlepeer-review

Abstract

Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of disorders characterized by early-onset, often severe epileptic seizures and EEG abnormalities on a background of developmental impairment that tends to worsen as a consequence of epilepsy. DEEs may result from both nongenetic and genetic etiologies. Genetic DEEs have been associated with mutations in many genes involved in different functions including cell migration, proliferation, and organization, neuronal excitability, and synapse transmission and plas-ticity. Functional studies performed in different animal models and clinical trials on patients have contributed to elucidate pathophysiological mechanisms underlying many DEEs and have explored the efficacy of different treatments. Here, we provide an extensive review of the phenotypic spectrum included in the DEEs and of the genetic determinants and pathophysiological mechanisms underlying these conditions. We also provide a brief overview of the most effective treatment now available and of the emerging therapeutic approaches.

Original languageEnglish (US)
Pages (from-to)433-513
Number of pages81
JournalPhysiological Reviews
Volume103
Issue number1
DOIs
StatePublished - Jan 2023

Keywords

  • channelopathies
  • developmental and epileptic encephalopathies
  • epileptogenesis
  • personalized treatment approaches
  • synaptopathies

ASJC Scopus subject areas

  • Physiology
  • Molecular Biology
  • Physiology (medical)

Fingerprint

Dive into the research topics of 'DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHIES: FROM GENETIC HETEROGENEITY TO PHENOTYPIC CONTINUUM'. Together they form a unique fingerprint.

Cite this