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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...

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Detalles Bibliográficos
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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
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