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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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Bibliografische gegevens
Gepubliceerd in:Epilepsia
Hoofdauteurs: Holland, Katherine D., Bouley, Thomas M., Horn, Paul S.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2017
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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