<i>KCNA1</i> gain‐of‐function epileptic encephalopathy treated with 4‐aminopyridine
Precision medicine for Mendelian epilepsy is rapidly developing. We describe an early infant with severely pharmacoresistant multifocal epilepsy. Exome sequencing revealed the de novo variant p.(Leu296Phe) in the gene KCNA1, encoding the voltage-gated K+ channel subunit KV 1.1. So far, loss-of-funct...
Sparad:
| Huvudupphovsmän: | , , , , , , , , , , |
|---|---|
| Materialtyp: | Artigo |
| Språk: | engelska |
| Publicerad: |
2023
|
| Länkar: | https://doi.org/10.1002/acn3.51742 https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/acn3.51742 |
| Taggar: |
Lägg till en tagg
Inga taggar, Lägg till första taggen!
|