Austin Health

Title
Genes4Epilepsy: an epilepsy gene resource.
Publication Date
2023-05
Author(s)
Oliver, Karen L
Scheffer, Ingrid E
Bennett, Mark F
Grinton, Bronwyn E
Bahlo, Melanie
Berkovic, Samuel F
Subject
Monogenic disease
epilepsy panel
genetic architecture
pathogenic gene resource
Type of document
Journal Article
OrcId
0000-0001-5188-6153
0000-0002-2311-2174
0000-0002-3561-6804
0000-0003-4880-2486
0000-0001-5132-0774
0000-0003-4580-841X
DOI
10.1111/epi.17547
Abstract
"How many epilepsy genes are there?" is a frequently asked question. We sought to: 1) provide a curated list of genes that cause monogenic epilepsies, and 2) compare and contrast epilepsy gene panels from multiple sources.
Link
Citation
Epilepsia 2023-05; 64(5)
Jornal Title
Epilepsia
ISSN
1528-1167

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