Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy

Dick Schijven, Remi Stevelink, Mark McCormack, Wouter van Rheenen, Jurjen J. Luykx, Bobby P. C. Koeleman, Jan H. Veldink*, Project MinE ALS GWAS Consortium, PARALS registry, SLALOM group, SLAP registry, SLAGEN Consortium, NNIPPS Study Group, International League Against Epilepsy Consortium on Complex Epilepsies

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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Because hyper-excitability has been shown to be a shared pathophysiological mechanism, we used the latest and largest genome-wide studies in amyotrophic lateral sclerosis (n = 36,052) and epilepsy (n = 38,349) to determine genetic overlap between these conditions. First, we showed no significant genetic correlation, also when binned on minor allele frequency. Second, we confirmed the absence of polygenic overlap using genomic risk score analysis. Finally, we did not identify pleiotropic variants in meta-analyses of the 2 diseases. Our findings indicate that amyotrophic lateral sclerosis and epilepsy do not share common genetic risk, showing that hyper-excitability in both disorders has distinct origins.

Original languageEnglish
Pages (from-to)153.e1-153.e5
Number of pages5
JournalNeurobiology of Aging
Publication statusPublished - 1 Aug 2020

Bibliographical note

Copyright the Author(s) 2020. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.


  • ALS
  • Epilepsy
  • Genetic correlation


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