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
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Elkhateeb N et al.
Clinical Genetics, 2024
Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing.
Gamirova R et al.
Journal of Human Genetics, 2024
Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique
Atlı E et al.
Balkan Medical Journal, 2023
Epilepsy and sudden unexpected death in epilepsy in a mouse model of human SCN1B-linked developmental and epileptic encephalopathy.
Chen C et al.
Brain Communications, 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
Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.
Ademuwagun IA et al.
Frontiers in Neurology, 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
Voltage-Gated Sodium Channel β1 Gene: An Overview.
Al-Ward H et al.
Human Heredity, 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
Role of Sodium Channels in Epilepsy.
Kaplan DI et al.
Cold Spring Harbor Perspectives in Medicine, 2016
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
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
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
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
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