Case Report: Causative De novo Variants of KCNT2 for Developmental and Epileptic Encephalopathy
Objective:KCNT2 gene mutations had been described to cause developmental and epileptic encephalopathies (DEEs). In this study, we presented the detailed clinical features and genetic analysis of two unrelated patients carrying two de novo variants in KCNT2 and reviewed eight different cases availabl...
محفوظ في:
| المؤلفون الرئيسيون: | , , , |
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| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
Frontiers Media S.A.
2021-06-01
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| سلاسل: | Frontiers in Genetics |
| الموضوعات: | |
| الوصول للمادة أونلاين: | https://www.frontiersin.org/articles/10.3389/fgene.2021.649556/full |
| الوسوم: |
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