Associated Papers
Patients carrying pathogenic SCN8A variants with loss- and gain-of-function effects can be classified into five subgroups exhibiting varying developmental and epileptic components of encephalopathy.
Hack JB et al.
Epilepsia, 2024
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
Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children.
Hoei-Hansen CE et al.
Neuropediatrics, 2021
Sodium channelopathies of skeletal muscle and brain.
Mantegazza M et al.
Physiological Reviews, 2021
Autistic-like behavior, spontaneous seizures, and increased neuronal excitability in a Scn8a mouse model.
Wong JC et al.
Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology, 2021
Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease.
Wong JC et al.
Frontiers in Pharmacology, 2021
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
The spectrum of intermediate SCN8A-related epilepsy.
Johannesen KM et al.
Epilepsia, 2019
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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