Associated Papers
Whole exome sequencing revealed ultra-rare genetic variations in juvenile myoclonic epilepsy.
Yacoub AM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
New focus on cardiac voltage-gated sodium channel β1 and β1B: Novel targets for treating and understanding arrhythmias?
Williams ZJ et al.
Heart Rhythm, 2025
Cardiac sodium channel complexes and arrhythmia: structural and functional roles of the β1 and β3 subunits.
Salvage SC et al.
The Journal of Physiology, 2023
Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique
Atlı E et al.
Balkan Medical Journal, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
SCN1B Genetic Variants: A Review of the Spectrum of Clinical Phenotypes and a Report of Early Myoclonic Encephalopathy.
Zhu Z et al.
Children (basel, Switzerland), 2022
Generation of SCN1B knock out induced pluripotent stem cell (iPSC) line (refractory epilepsy syndrome and Brugada syndrome related cell line).
Shan W et al.
Stem Cell Research, 2021
Molecular Pathology of Sodium Channel Beta-Subunit Variants.
Angsutararux P et al.
Frontiers in Pharmacology, 2021
Dramatic Improvement in Seizures With Phenytoin Treatment in an Individual With Refractory Epilepsy and a SCN1B Variant.
Dang LT et al.
Pediatric Neurology, 2020
SCN1B-linked early infantile developmental and epileptic encephalopathy.
Aeby A et al.
Annals of Clinical and Translational Neurology, 2019
Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.
Darras N et al.
American Journal of Medical Genetics. Part A, 2019
SCN1B and SCN2B gene variants analysis in dravet syndrome patients: Analysis of 22 cases.
Gong JE et al.
Medicine, 2019
The adhesion function of the sodium channel beta subunit (β1) contributes to cardiac action potential propagation.
Veeraraghavan R et al.
Elife, 2018
Voltage-Gated Sodium Channel β Subunits and Their Related Diseases.
Bouza AA et al.
Handbook of Experimental Pharmacology, 2018
Voltage-Gated Sodium Channel β1/β1B Subunits Regulate Cardiac Physiology and Pathophysiology.
Edokobi N et al.
Frontiers in Physiology, 2018
Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy.
Ramadan W et al.
Clinical Genetics, 2017
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
Structure-based site-directed photo-crosslinking analyses of multimeric cell-adhesive interactions of voltage-gated sodium channel β subunits.
Shimizu H et al.
Scientific Reports, 2016
Sodium channel β subunits: emerging targets in channelopathies.
O'Malley HA et al.
Annual Review of Physiology, 2015
On the multiple roles of the voltage gated sodium channel β1 subunit in genetic diseases.
Baroni D et al.
Frontiers in Pharmacology, 2015
Investigations of the Navβ1b sodium channel subunit in human ventricle; functional characterization of the H162P Brugada syndrome mutant.
Yuan L et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2014
Atrial fibrillation: the role of common and rare genetic variants.
Olesen MS et al.
European Journal of Human Genetics : Ejhg, 2014
The role of non-pore-forming β subunits in physiology and pathophysiology of voltage-gated sodium channels.
Calhoun JD et al.
Handbook of Experimental Pharmacology, 2014
Functional modulation of voltage-dependent sodium channel expression by wild type and mutated C121W-β1 subunit.
Baroni D et al.
Journal of Bioenergetics and Biomembranes, 2013
Trafficking mechanisms underlying neuronal voltage-gated ion channel localization at the axon initial segment.
Vacher H et al.
Epilepsia, 2012
A thermoprotective role of the sodium channel β1 subunit is lost with the β1 (C121W) mutation.
Egri C et al.
Epilepsia, 2012
Voltage-gated Na+ channel β1B: a secreted cell adhesion molecule involved in human epilepsy.
Patino GA et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011
New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures.
Fendri-Kriaa N et al.
European Journal of Neurology, 2011
Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.
Wilde AA et al.
Circulation Research, 2011
Monogenic atrial fibrillation as pathophysiological paradigms.
Mahida S et al.
Cardiovascular Research, 2011
Mossy fiber sprouting interacts with sodium channel mutations to increase dentate gyrus excitability.
Thomas EA et al.
Epilepsia, 2010
A functional null mutation of SCN1B in a patient with Dravet syndrome.
Patino GA et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2009
Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation.
Watanabe H et al.
Circulation. Arrhythmia and Electrophysiology, 2009
Genes associated with idiopathic epilepsies: a current overview.
Lu Y et al.
Neurological Research, 2009
Mechanisms of human inherited epilepsies.
Reid CA et al.
Progress in Neurobiology, 2009
Genetic etiology of new forms of familial epilepsy.
Wang X et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2008
Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.
Xu R et al.
Neuroscience, 2007
Computational analysis of the R85C and R85H epilepsy mutations in Na+ channel beta1 subunits.
Thomas EA et al.
Neuroscience, 2007
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.
Scheffer IE et al.
Brain : a Journal of Neurology, 2007
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 2005