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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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| 出版年: | Mol Genet Genomic Med |
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| 主要な著者: | , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2019
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| 主題: | |
| オンライン･アクセス: | 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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