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Functional and pharmacological evaluation of a novel SCN2A variant linked to early‐onset epilepsy
OBJECTIVE: We identified a novel de novo SCN2A variant (M1879T) associated with infantile‐onset epilepsy that responded dramatically to sodium channel blocker antiepileptic drugs. We analyzed the functional and pharmacological consequences of this variant to establish pathogenicity, and to correlate...
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| Publicado no: | Ann Clin Transl Neurol |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7480906/ https://ncbi.nlm.nih.gov/pubmed/32750235 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51105 |
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