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Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication
Copy number variations (CNVs) have been related to developmental and epileptic encephalopathy (DEE). The 2q24.3 region includes a cluster of genes for voltage-gated sodium channels (SCN) and CNVs in this region cause DEE. However, the long-term course of DEE with a 2q24.3 duplication has not been de...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9207545/ https://www.ncbi.nlm.nih.gov/pubmed/35733834 http://dx.doi.org/10.1016/j.ebr.2022.100547 |