Deciphering the Natural History of <i>SCN8A</i> -Related Disorders
<i>SCN8A</i>-related disorders distinguish themselves from other genetic epilepsies by the frequent bilateral tonic-clonic seizures in infancy, prominent early epileptic and developmental features in GOF variant carriers, and unique seizure phenotypes in those with recurrent variants. Our study provides a longitudinal perspective on <i>SCN8A</i>-related disorders, paving the way for future precision medicine approaches.
Authors
- Francesca Furia (ORCID: https://orcid.org/0000-0002-4893-9768)
- Elise Brimble (ORCID: https://orcid.org/0000-0002-7238-7342)
- Jillian L. McKee (ORCID: https://orcid.org/0000-0001-9724-0403)
- Elena Gardella (ORCID: https://orcid.org/0000-0002-7138-6022)
- Stacey Cohen (ORCID: https://orcid.org/0000-0001-6971-8289)
- Julie Xian (ORCID: https://orcid.org/0000-0002-0205-0648)
- Rikke S. Møller (ORCID: https://orcid.org/0000-0002-9664-1448)
- Michael C. Kaufman (ORCID: https://orcid.org/0000-0003-2718-296X)
- Shridhar Parthasarathy (ORCID: https://orcid.org/0000-0001-7415-801X)
- Nasha Fitter
- Jan Magielski (ORCID: https://orcid.org/0000-0001-7290-4939)
- Ingo Helbig (ORCID: https://orcid.org/0000-0001-8486-0558)
Institutions
- Children's Hospital of Philadelphia (US)
- Johns Hopkins University (US)
- University of Southern Denmark (DK)
- Johns Hopkins Medicine (US)
- Public Citizen (US)
- University of Pennsylvania (US)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-14
- DOI
- https://doi.org/10.1212/wnl.0000000000213533
- Citations
- 10
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 13.88