Associated Papers
Precision medicine for sodium channelopathy-related autism and epilepsy.
Robinson M et al.
Trends in Molecular Medicine, 2025
In vitro effects of eslicarbazepine (S-licarbazepine) as a potential precision therapy on SCN8A variants causing neuropsychiatric disorders.
Bayraktar E et al.
British Journal of Pharmacology, 2023
Variant-specific changes in persistent or resurgent sodium current in SCN8A-related epilepsy patient-derived neurons.
Tidball AM et al.
Brain : a Journal of Neurology, 2020
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
28554332 (PubMed )
Supplement: 13073_2017_433_MOESM2_ESM.xlsx › Sheet1
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