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Novel metabolic signatures of compound heterozygous Szt2 variants in a case of early‐onset of epileptic encephalopathy
Our study reports the case of a patient with early onset of epileptic encephalopathy harboring compound heterozygous Szt2 variants. We provide the first evidence that these Szt2 variants impair mitochondrial energy metabolism. Our results shed light on their pathogenic molecular mechanism and clinic...
में बचाया:
| में प्रकाशित: | Clin Case Rep |
|---|---|
| मुख्य लेखकों: | , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
John Wiley and Sons Inc.
2018
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6293145/ https://ncbi.nlm.nih.gov/pubmed/30564332 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1868 |
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