Wird geladen...
Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy
Two paternally-inherited missense variants in CACNA1H were identified and characterized in a 6-year-old child with generalized epilepsy. Febrile and unprovoked seizures were present in this child. Both variants were expressed in cis or isolation using human recombinant Cav3.2 calcium channels in tsA...
Gespeichert in:
| Veröffentlicht in: | Mol Brain |
|---|---|
| Hauptverfasser: | , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2019
|
| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6814130/ https://ncbi.nlm.nih.gov/pubmed/31651342 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13041-019-0509-5 |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|