Inherited Developmental and Epileptic Encephalopathies

Overview

Journal Neurol Int

Publisher MDPI

Specialty Neurology

Date 2021 Nov 29

PMID 34842787

Citations 6

Authors

Emanuele Bartolini

Affiliations

Soon will be listed here.

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.

Citing Articles

Identification of Genetic Variants in Status Epilepticus Associated With Fever.

Hanafusa H, Yamaguchi H, Morisada N, Ye M, Oikawa S, Tokumoto S Brain Behav. 2025; 15(2):e70279.

PMID: 39915231 PMC: 11802276. DOI: 10.1002/brb3.70279.

Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies.

Medyanik A, Anisimova P, Kustova A, Tarabykin V, Kondakova E Biomolecules. 2025; 15(1).

PMID: 39858526 PMC: 11763800. DOI: 10.3390/biom15010133.

Voltage-Gated Ion Channel Compensatory Effect in DEE: Implications for Future Therapies.

Shabani K, Krupp J, Lemesre E, Levy N, Tran H Cells. 2024; 13(21.

PMID: 39513870 PMC: 11544952. DOI: 10.3390/cells13211763.

A Comprehensive Review on Current Insights Into Epileptic Encephalopathy: Pathogenesis and Therapeutic Strategies.

Patil R, Kumar S, Acharya S, Karwa V, Shaikh S, Kothari M Cureus. 2024; 16(7):e64901.

PMID: 39156332 PMC: 11330678. DOI: 10.7759/cureus.64901.

AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings.

Romero V, Saenz S, Arias-Almeida B, DiCapua D, Hosomichi K Front Neurol. 2024; 15:1376643.

PMID: 38689878 PMC: 11059961. DOI: 10.3389/fneur.2024.1376643.

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