SCN2A gene mutations with epilepsy: single center experience
Cases of refractory epilepsy in infancy and young children with autism and abnormal paraventricular white matter on magnetic resonance imaging should be vigilant of SCN2A gene mutations. The degree of epilepsy control cannot be predicted based on the type of gene mutation, and treatment with LEV, VPA, and PB can achieve therapeutic effects in controlling epilepsy.
Authors
- Fan Feng (ORCID: https://orcid.org/0000-0002-5990-312X)
- Fang Chen (ORCID: https://orcid.org/0009-0001-9368-0353)
- Minglei Yang (ORCID: https://orcid.org/0000-0002-0708-1320)
- Le Wang (ORCID: https://orcid.org/0000-0002-6142-7134)
- Tong Zhao (ORCID: https://orcid.org/0000-0003-4119-7981)
- Yun Xie
Institutions
- Hebei University of Science and Technology (CN)
- Hospital of Hebei Province (CN)
- Hebei Provincial Center for Disease Control and Prevention (CN)
Publication Details
- Journal
- The Italian Journal of Pediatrics/Italian journal of pediatrics
- Published
- 2025-06-03
- DOI
- https://doi.org/10.1186/s13052-025-02009-4
- Citations
- 3
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 5.45