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Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies
BACKGROUND: The seizure threshold 2 (SZT2) gene encodes a large, highly conserved protein that lowers seizure threshold and may also enhance epileptogenesis. In this study, three patients diagnosed with SZT2‐related developmental and epileptic encephalopathies (DEEs) were reviewed aiming to expand k...
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| Publicado en: | Mol Genet Genomic Med |
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| Autores principales: | , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6732301/ https://ncbi.nlm.nih.gov/pubmed/31397114 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.926 |
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