Article (Scientific journals)
Data-driven historical characterization of epilepsy-associated genes.
Macnee, Marie; Perez-Palma, Eduardo; Lopez-Rivera, Javier A. et al.
2022In European Journal of Paediatric Neurology
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Keywords :
Epilepsy; monogenic; Literature review; Genetics; Variant function; Epilepsy genes
Abstract :
[en] Many 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.
Research center :
- Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
Disciplines :
Genetics & genetic processes
Author, co-author :
Macnee, Marie
Perez-Palma, Eduardo
Lopez-Rivera, Javier A.
Ivaniuk, Alina
May, Patrick  ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Bioinformatics Core
Møller, Rikke S.
Lal, Dennis
External co-authors :
Language :
Title :
Data-driven historical characterization of epilepsy-associated genes.
Publication date :
13 December 2022
Journal title :
European Journal of Paediatric Neurology
Publisher :
Elsevier, Amsterdam, Netherlands
Peer reviewed :
Peer Reviewed verified by ORBi
Focus Area :
Systems Biomedicine
FnR Project :
FNR16394868 - Epileptogenesis Of Genetic Epilepsies, 2021 (01/10/2021-...) - Alexander Skupin
Funders :
FNR - Fonds National de la Recherche [LU]
BMBF - Bundesministerium für Bildung und Forschung [DE]
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since 14 December 2022


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