Associated Papers
SCN9A should not be considered an epilepsy gene; Refuting a gene-disease association.
Ghanty I et al.
Epilepsia, 2025
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Thompson L et al.
Frontiers in Pediatrics, 2024
38440187 (PubMed )
Supplement: Table3.xlsx › Sheet1
Sodium voltage-gated channel alpha subunit 9 mutation in epilepsy.
Albaradie R et al.
European Review for Medical and Pharmacological Sciences, 2021
No association between SCN9A and monogenic human epilepsy disorders.
Fasham J et al.
Plos Genetics, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
SCN9A: another sodium channel excited to play a role in human epilepsies.
Doty CN
Clinical Genetics, 2010
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
Singh NA et al.
Plos Genetics, 2009
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