Associated Papers
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY et al.
Jama Network Open, 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
Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.
Ding J et al.
Frontiers in Neurology, 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
Channelopathy of Dravet Syndrome and Potential Neuroprotective Effects of Cannabidiol.
Xu C et al.
Journal of Central Nervous System Disease, 2021
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
Delayed maturation of GABAergic signaling in the Scn1a and Scn1b mouse models of Dravet Syndrome.
Yuan Y et al.
Scientific Reports, 2019
SCN1B and SCN2B gene variants analysis in dravet syndrome patients: Analysis of 22 cases.
Gong JE et al.
Medicine, 2019
Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.
Jang SS et al.
Frontiers in Neurology, 2019
Voltage-gated sodium channel β subunits: The power outside the pore in brain development and disease.
Hull JM et al.
Neuropharmacology, 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
β1-C121W Is Down But Not Out: Epilepsy-Associated Scn1b-C121W Results in a Deleterious Gain-of-Function.
Kruger LC et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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
Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia.
Zhang Z et al.
Scandinavian Journal of Pain, 2014
Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome.
Reid CA et al.
Brain : a Journal of Neurology, 2014
The molecular biology of genetic-based epilepsies.
Deng H et al.
Molecular Neurobiology, 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
A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome.
Ogiwara I et al.
Epilepsia, 2012
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
A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome.
Fendri-Kriaa N et al.
Biochemical and Biophysical Research Communications, 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
Dravet syndrome: insights from in vitro experimental models.
Mantegazza M
Epilepsia, 2011
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
Dravet syndrome with SCN1B gene mutation: A rare entity.
Mukherjee D et al.
Neurology India, 0