Universität zu Köln

Macnee, Marie, Perez-Palma, Eduardo, Lopez-Rivera, Javier A., Ivaniuk, Alina ORCID: 0000-0001-9912-3112, May, Patrick ORCID: 0000-0001-8698-3770, Moller, Rikke S. ORCID: 0000-0002-9664-1448 and Lal, Dennis (2023). Data-driven historical characterization of epilepsy-associated genes. Eur. J. Paediatr. Neurol., 42. S. 82 - 88. OXFORD: ELSEVIER SCI LTD. ISSN 1532-2130

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Abstract

Many epilepsy-associated genes have been identified over the last three decades, revealing a remarkable mo-lecular 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 interpre-tation. 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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Macnee, Marie UNSPECIFIED UNSPECIFIED UNSPECIFIED Perez-Palma, Eduardo UNSPECIFIED UNSPECIFIED UNSPECIFIED Lopez-Rivera, Javier A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Ivaniuk, Alina UNSPECIFIED orcid.org/0000-0001-9912-3112 UNSPECIFIED May, Patrick UNSPECIFIED orcid.org/0000-0001-8698-3770 UNSPECIFIED Moller, Rikke S. UNSPECIFIED orcid.org/0000-0002-9664-1448 UNSPECIFIED Lal, Dennis UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-690422
DOI:	10.1016/j.ejpn.2022.12.005
Journal or Publication Title:	Eur. J. Paediatr. Neurol.
Volume:	42
Page Range:	S. 82 - 88
Date:	2023
Publisher:	ELSEVIER SCI LTD
Place of Publication:	OXFORD
ISSN:	1532-2130
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language DE-NOVO MUTATIONS; CLASSIFICATION Multiple languages Clinical Neurology; Pediatrics Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/69042