Publication:
Data-driven historical characterization of epilepsy-associated genes

Simple item page
dc.contributor.authorMacnee, Marie
dc.contributor.authorPérez, Eduardo
dc.contributor.authorLópez, Javier
dc.contributor.authorIvaniuk, Alina
dc.contributor.authorMay, Patrick
dc.contributor.authorMøller, Rikke
dc.contributor.authorLal, Dennis
dc.date.accessioned2023-03-31T13:57:34Z
dc.date.available2023-03-31T13:57:34Z
dc.date.issued2022
dc.description.abstractMany epilepsy-associated genes have been identified over the last three decades, revealing a remarkable molecular heterogeneity with the shared outcome of recurrent seizures. Information about the genetic landscape of epilepsies is scattered throughout the literature and answering the simple question of how many genes are associated with epilepsy is not straightforward. Here, we present a computationally driven analytical review of epilepsy-associated genes using the complete scientific literature in PubMed. Based on our search criteria, we identified a total of 738 epilepsy-associated genes. We further classified these genes into two Tiers. A broad gene list of 738 epilepsy-associated genes (Tier 2) and a narrow gene list composed of 143 epilepsy-associated genes (Tier 1). Our search criteria do not reflect the degree of association. The average yearly number of identified epilepsy-associated genes between 1992 and 2021 was 4.8. However, most of these genes were only identified in the last decade (2010-2019). Ion channels represent the largest class of epilepsy-associated genes. For many of these, both gain- and loss-of-function effects have been associated with epilepsy in recent years. We identify 28 genes frequently reported with heterogenous variant effects which should be considered for variant interpretation. Overall, our study provides an updated and manually curated list of epilepsy-related genes together with additional annotations and classifications reflecting the current genetic landscape of epilepsy.
dc.description.versionVersión publicada
dc.identifier.citationMacnee M, Pérez-Palma E, López-Rivera JA, Ivaniuk A, May P, Møller RS, Lal D. Data-driven historical characterization of epilepsy-associated genes. Eur J Paediatr Neurol. 2023 Jan;42:82-87. doi: 10.1016/j.ejpn.2022.12.005
dc.identifier.doihttps://doi.org/10.1016/j.ejpn.2022.12.005
dc.identifier.urihttps://repositorio.udd.cl/handle/11447/7209
dc.language.isoen
dc.subjectEpilepsy
dc.subjectMonogenic
dc.subjectEpilepsy genes
dc.subjectGenetics
dc.subjectLiterature review
dc.subjectVariant function
dc.titleData-driven historical characterization of epilepsy-associated genes
dc.typeArticle
dcterms.accessRightsAcceso abierto
dcterms.sourceEuropean Journal of Paediatric Neurology
dspace.entity.typePublication

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
1. Data-driven historical characterization of epilepsy-associated genes.pdf
Size:
2.27 MB
Format:
Adobe Portable Document Format
Description:
Texto completo
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

Artículos Medicina y Ciencias de la Salud

Implementado por OpenGeek Services