Dravet syndrome: novel insights into SCN1A-mediated epileptic neurodevelopmental disorders within the molecular diagnostic-therapeutic framework
Dravet Syndrome (DS), a rare genetic encephalopathy characterized by severe drug-resistant epilepsy and progressive neurodevelopmental regression in infancy, is caused by de novo mutations in the SCN1A gene on chromosome 2q24 in over 80% of cases. This review synthesizes current insights into its mo...
Gorde:
| Egile Nagusiak: | , , , , , |
|---|---|
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Frontiers Media S.A.
2025-07-01
|
| Saila: | Frontiers in Neuroscience |
| Gaiak: | |
| Sarrera elektronikoa: | https://www.frontiersin.org/articles/10.3389/fnins.2025.1634718/full |
| Etiketak: |
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!
|