Ontology highlight
ABSTRACT:
SUBMITTER: Guerrini R
PROVIDER: S-EPMC9576177 | biostudies-literature | 2023 Jan
REPOSITORIES: biostudies-literature
Guerrini Renzo R Conti Valerio V Mantegazza Massimo M Balestrini Simona S Galanopoulou Aristea S AS Benfenati Fabio F
Physiological reviews 20220811 1
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 excita ...[more]