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Paradoxical hyperexcitability from Na(V)1.2 sodium channel loss in neocortical pyramidal cells
Loss-of-function variants in the gene SCN2A, which encodes the sodium channel Na(V)1.2, are strongly associated with autism spectrum disorder and intellectual disability. An estimated 20%–30% of children with these variants also suffer from epilepsy, with altered neuronal activity originating in neo...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8719649/ https://www.ncbi.nlm.nih.gov/pubmed/34348157 http://dx.doi.org/10.1016/j.celrep.2021.109483 |