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No association between SCN9A and monogenic human epilepsy disorders
Many studies have demonstrated the clinical utility and importance of epilepsy gene panel testing to confirm the specific aetiology of disease, enable appropriate therapeutic interventions, and inform accurate family counselling. Previously, SCN9A gene variants, in particular a c.1921A>T p.(Asn64...
Autores principales: | Fasham, James, Leslie, Joseph S., Harrison, Jamie W., Deline, James, Williams, Katie B., Kuhl, Ashley, Scott Schwoerer, Jessica, Cross, Harold E., Crosby, Andrew H., Baple, Emma L. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7717534/ https://www.ncbi.nlm.nih.gov/pubmed/33216760 http://dx.doi.org/10.1371/journal.pgen.1009161 |
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