Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
channelopathies
developmental and epileptic encephalopathies
epileptogenesis
personalized treatment approaches
synaptopathies
Journal
Physiological reviews
ISSN: 1522-1210
Titre abrégé: Physiol Rev
Pays: United States
ID NLM: 0231714
Informations de publication
Date de publication:
01 01 2023
01 01 2023
Historique:
pmc-release:
01
01
2024
pubmed:
12
8
2022
medline:
19
10
2022
entrez:
11
8
2022
Statut:
ppublish
Résumé
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 plasticity. 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.
Identifiants
pubmed: 35951482
doi: 10.1152/physrev.00063.2021
pmc: PMC9576177
doi:
Types de publication
Journal Article
Review
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
433-513Subventions
Organisme : NICHD NIH HHS
ID : P50 HD105352
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS127524
Pays : United States
Organisme : NINDS NIH HHS
ID : U54 NS100064
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS091170
Pays : United States
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