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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7480906/ https://www.ncbi.nlm.nih.gov/pubmed/32750235 http://dx.doi.org/10.1002/acn3.51105 |