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Defining the phenotype of FHF1 developmental and epileptic encephalopathy
Fibroblast-growth-factor homologous factor (FHF1) gene variants have recently been associated with developmental and epileptic encephalopathy (DEE). FHF1 encodes a cytosolic protein that modulates neuronal sodium channel gating. We aim to refine the electro-clinical phenotypic spectrum of patients w...
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| 發表在: | Epilepsia |
|---|---|
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2020
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8168379/ https://ncbi.nlm.nih.gov/pubmed/32645220 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/epi.16582 |
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