Phenotypic heterogeneity in familial epilepsies is influenced by polygenic risk for generalized and focal epilepsies
The occurrence of families with both generalized and focal epilepsy in separate individuals is explained at least partly by the chance co-occurrence of distinct genetic risk alleles for generalized and focal epilepsies. Within mixed families, an individual's epilepsy type can be explained at least in part by the relative burden of risk alleles for genetic generalized epilepsy.
Authors
- Ruth Ottman (ORCID: https://orcid.org/0000-0001-7074-242X)
- Karen Oliver (ORCID: https://orcid.org/0000-0001-5188-6153)
- Colin A. Ellis (ORCID: https://orcid.org/0000-0003-2152-8106)
- Michael P. Epstein (ORCID: https://orcid.org/0000-0001-9647-9738)
- Samuel F. Berkovic (ORCID: https://orcid.org/0000-0003-4580-841X)
Institutions
- Emory University (US)
- The University of Melbourne (AU)
- Walter and Eliza Hall Institute of Medical Research (AU)
- Columbia University Irving Medical Center (US)
- New York State Office of Mental Health (US)
- Austin Health (AU)
- New York State Psychiatric Institute
- University of Pennsylvania (US)
Publication Details
- Journal
- Epilepsia
- Published
- 2025-03-06
- DOI
- https://doi.org/10.1111/epi.18348
- Citations
- 3
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 5.45
Funders
- National Health and Medical Research Council
- National Institute of Neurological Disorders and Stroke