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Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy
OBJECTIVE: Variants in neuronal voltage gated sodium channel α-subunits genes SCN1A, SCN2A, and SCN8A are common in early-onset epileptic encephalopathies and other autosomal dominant childhood epilepsy syndromes. However, in clinical practice missense variants are often classified as variants of un...
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| Gepubliceerd in: | Epilepsia |
|---|---|
| Hoofdauteurs: | , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
2017
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5505324/ https://ncbi.nlm.nih.gov/pubmed/28518218 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/epi.13798 |
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