Cargando…
De novo Y1460C missense variant in Na(V)1.1 impedes the pore region and results in epileptic encephalopathy
Epilepsy is a common neurological disorder characterized by recurrent unprovoked seizures. SCN1A encodes Na(V)1.1, a neuronal voltage-gated Na(+) channel that is highly expressed throughout the central nervous system. Na(V)1.1 is localized within the axon initial segment where it plays a critical ro...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2022
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9561119/ https://www.ncbi.nlm.nih.gov/pubmed/36229510 http://dx.doi.org/10.1038/s41598-022-22208-x |