Associated Papers
Neonatal-onset epileptic encephalopathy with lissencephaly associated with a SCN3A variant: The first case in Korea and literature review.
Lee HA et al.
Seizure, 2026
Genetic Diversity in Early Infantile Epileptic Encephalopathy: A Three-Year Cohort Study.
Torbati PN et al.
Pediatric Neurology, 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
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease.
M K et al.
American Journal of Medical Genetics. Part A, 2024
Targeted blockade of aberrant sodium current in a stem cell-derived neuron model of SCN3A encephalopathy.
Qu G et al.
Brain : a Journal of Neurology, 2024
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
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
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
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Predicting the impact of sodium channel mutations in human brain disease.
Noebels JL
Epilepsia, 2019
Reanalysis of whole exome sequencing data in patients with epilepsy and intellectual disability/mental retardation.
Li J et al.
Gene, 2019
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
Baker SW et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development.
Smith RS et al.
Neuron, 2018
Reply to "Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria".
Goldberg EM et al.
Annals of Neurology, 2018
Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.
Miyatake S et al.
Annals of Neurology, 2018
Mutations in SCN3A cause early infantile epileptic encephalopathy.
Zaman T et al.
Annals of Neurology, 2018
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017