Rare dysfunctional <scp> <i>SCN2A</i> </scp> variants are associated with malformation of cortical development
These results support expansion of the clinical spectrum of SCN2A-related disorders and the association of genetic variation in SCN2A with MCD, which suggests previously undescribed roles for SCN2A in fetal brain development.
Authors
- Jinan Jiang (ORCID: https://orcid.org/0000-0002-2065-9211)
- Renzo Guerrini (ORCID: https://orcid.org/0000-0002-7272-7079)
- Roy Ben‐Shalom (ORCID: https://orcid.org/0000-0002-5742-5769)
- Alfred L. George (ORCID: https://orcid.org/0000-0002-3993-966X)
- Jérôme Clatot (ORCID: https://orcid.org/0000-0003-2896-3469)
- Laura Malerba (ORCID: https://orcid.org/0000-0002-7571-9103)
- Natalie Ginn
- D. Isum Ward
- Mia Sherer (ORCID: https://orcid.org/0000-0001-9303-1540)
- Angeliki Vakrinou (ORCID: https://orcid.org/0000-0003-4363-468X)
- Marina Trivisano (ORCID: https://orcid.org/0000-0002-9841-8581)
- Ethan M. Goldberg (ORCID: https://orcid.org/0000-0002-7404-735X)
- Ala Somarowthu (ORCID: https://orcid.org/0000-0001-8109-3816)
- Simona Balestrini (ORCID: https://orcid.org/0000-0001-5639-1969)
- Nicola Specchio (ORCID: https://orcid.org/0000-0002-8120-0287)
- Susan Sotardi (ORCID: https://orcid.org/0000-0001-8389-2419)
- Sanjay M. Sisodiya (ORCID: https://orcid.org/0000-0002-1511-5893)
- Brunetta Guaragni
- Christopher H. Thompson (ORCID: https://orcid.org/0000-0003-3713-630X)
- Ingo Helbig (ORCID: https://orcid.org/0000-0001-8486-0558)
Institutions
- Northwestern University (US)
- Children's Hospital of Philadelphia (US)
- University of South Dakota (US)
- Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia (IT)
- Meyer Children's Hospital (IT)
- Bambino Gesù Children's Hospital (IT)
- National Hospital for Neurology and Neurosurgery (GB)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- California State University, Sacramento (US)
- University of Florence (IT)
- University College London (GB)
- University of Pennsylvania (US)
- University of California, Berkeley (US)
Publication Details
- Journal
- Epilepsia
- Published
- 2024-12-21
- DOI
- https://doi.org/10.1111/epi.18234
- Citations
- 3
- Primary Topic
- Ion channel regulation and function
- Type
- article
- Field-Weighted Citation Impact
- 0.70
Funders
- Ministero della Salute
- Ministero dell’Istruzione, dell’Università e della Ricerca
- Regione Toscana
- National Institute of Neurological Disorders and Stroke