Associated Papers
Rare dysfunctional SCN2A variants are associated with malformation of cortical development.
Clatot J et al.
Epilepsia, 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
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM et al.
Brain : a Journal of Neurology, 2022
Reply: Genotype-phenotype correlations in SCN8A-related epilepsy: a cohort study of Chinese children in southern China.
Johannesen KM et al.
Brain : a Journal of Neurology, 2022
Functional analysis of three Nav1.6 mutations causing early infantile epileptic encephalopathy.
Solé L et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability.
Liu Y et al.
Brain : a Journal of Neurology, 2019
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