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Article

Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.

Physiological reviews - 1 Jan 2023

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

Abstract excerpt

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...

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Identifiers

PMID: 35951482
DOI: 10.1152/physrev.00063.2021
PMCID: PMC9576177

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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