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Infant sudden death: Mutations responsible for impaired Nav1.5 channel trafficking and function
BACKGROUND: Two genetic variants in SCN5A, encoding the Nav1.5 Na(+) channel α-subunit, were found in a 5-month-old girl who died suddenly in her sleep. The first variant is a missense mutation, resulting in an amino acid change (Q1832E), which has been described (but not characterized) in a patient...
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| Veröffentlicht in: | Pacing Clin Electrophysiol |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7325627/ https://ncbi.nlm.nih.gov/pubmed/28370132 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/pace.13087 |
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