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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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| Опубликовано в: : | Mol Genet Genomic Med |
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| Главные авторы: | , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
John Wiley and Sons Inc.
2019
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| Предметы: | |
| Online-ссылка: | 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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