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Functional consequences of a KCNT1 variant associated with status dystonicus and early‐onset infantile encephalopathy
OBJECTIVE: We identified a novel de novo KCNT1 variant in a patient with early‐infantile epileptic encephalopathy (EIEE) and status dystonicus, a life‐threatening movement disorder. We determined the functional consequences of this variant on the encoded K(Na)1.1 channel to investigate the molecular...
Kaydedildi:
| Yayımlandı: | Ann Clin Transl Neurol |
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| Asıl Yazarlar: | , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
John Wiley and Sons Inc.
2019
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6764634/ https://ncbi.nlm.nih.gov/pubmed/31560846 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50847 |
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