Associated Papers
Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
Chałupczyńska B et al.
Genes, 2026
Toward precision medicine in SCN3A variants-associated encephalopathies and epilepsy: optimizing genetic diagnosis and molecular subregional effects.
Wang PY et al.
Frontiers in Neurology, 2026
Structure and Function of Sodium Channel Nav1.3 in Neurological Disorders.
Liao S et al.
Cellular and Molecular Neurobiology, 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
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
35696452 (PubMed )
Supplement: awac210_supplementary_data.zip › brain-2022-00093-File010.pdf
Sodium channelopathies of skeletal muscle and brain.
Mantegazza M et al.
Physiological Reviews, 2021
Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.
Ademuwagun IA et al.
Frontiers in Neurology, 2021
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Mutations in SCN3A cause early infantile epileptic encephalopathy.
Zaman T et al.
Annals of Neurology, 2018
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Trujillano D et al.
European Journal of Human Genetics : Ejhg, 2017
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