Genetic testing for familial epilepsies: Diagnostic yield and genetic findings
Familial epilepsy has a substantial rate of genetic diagnosis and is an appropriate indication for genetic testing. Pedigree-related factors did not influence the likelihood of genetic diagnosis, suggesting that all families can be considered for genetic testing, independent of inheritance patterns and number of affected relatives. Familial patterns can help interpret genetic test results, while also revealing the complexities of incomplete penetrance and independent epilepsy etiologies in families.
Authors
- Jillian L. McKee (ORCID: https://orcid.org/0000-0001-9724-0403)
- Danielle deCampo
- Caren Armstrong (ORCID: https://orcid.org/0000-0001-8010-0850)
- Natalie Ginn
- Vishnu Anand Cuddapah (ORCID: https://orcid.org/0000-0002-4606-673X)
- Albert S. Baldwin (ORCID: https://orcid.org/0000-0003-1246-1333)
- Abiola Harrison
- J. Nathan Copeland (ORCID: https://orcid.org/0009-0009-3128-0782)
- Katie Rose Sullivan (ORCID: https://orcid.org/0000-0003-1162-337X)
- E. Neil G. Marsh (ORCID: https://orcid.org/0000-0003-1713-1683)
- Shavonne L. Massey (ORCID: https://orcid.org/0000-0002-8496-221X)
- Laina Lusk (ORCID: https://orcid.org/0000-0001-9799-9890)
- Amanda Back
- Naomi Lewin
- Pamela Pojomovsky McDonnell (ORCID: https://orcid.org/0000-0003-3474-6428)
- Ingo Helbig
- Anna J. Prentice
- Stacey Cohen
- Mark P. Fitzgerald
- Xilma Ortiz‐Gonzalez
- Sarah M. Ruggiero
- Ethan M. Goldberg
- Colin A. Ellis
- Hannah Shalaby
- Isabella Velez
- Brianna Berlin
Institutions
- Children's Hospital of Philadelphia (US)
- The University of Melbourne (AU)
- Walter and Eliza Hall Institute of Medical Research (AU)
- Austin Health (AU)
- Drexel University (US)
- University of Pennsylvania (US)
Publication Details
- Journal
- Epilepsia
- Published
- 2026-03-08
- DOI
- https://doi.org/10.1002/epi.70160
- Primary Topic
- Epilepsy research and treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00