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Updated: Oct 11, 2025

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
Published on: September 20, 2024
Inherited Developmental and Epileptic Encephalopathies
1USL Centro Toscana, Neurology Unit, Nuovo Ospedale Santo Stefano, 59100 Prato, Italy.
Abstract:
Epileptic encephalopathies often have a genetic etiology. The epileptic activity itself exerts a direct detrimental effect on neurodevelopment, which may add to the cognitive impairment induced by the underlying mutation ("developmental and epileptic encephalopathy"). The focus of this review is on inherited syndromes. The phenotypes of genetic disorders affecting ion channels, metabolic signalling, membrane trafficking and exocytosis, cell adhesion, cell growth and proliferation are discussed. Red flags suggesting family of genes or even specific genes are highlighted. The knowledge of the phenotypical spectrum can indeed prompt the clinician to suspect specific etiologies, expediting the diagnosis.
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