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Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants
Epileptic encephalopathies are severe forms of infantile-onset epilepsy often complicated by severe neurodevelopmental impairments. Some forms of early-onset epileptic encephalopathy (EOEE) have been associated with variants in SCN2A, which encodes the brain voltage-gated sodium channel Na(V)1.2. Ma...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Rockefeller University Press
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7054859/ https://www.ncbi.nlm.nih.gov/pubmed/31995133 http://dx.doi.org/10.1085/jgp.201912442 |