Associated Papers
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
Hyperthermic Seizure Susceptibility and Focal Decreases in Parvalbumin-Expressing Cortical Interneurons in a Mouse Model of PCDH19-Clustering Epilepsy.
Ziobro JM et al.
Biorxiv : the Preprint Server for Biology, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data.
Robertson E et al.
Nar Genomics and Bioinformatics, 2025
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
Neonatal but not juvenile gene therapy reduces seizures and prolongs lifespan in SCN1B-Dravet syndrome mice.
Chen C et al.
The Journal of Clinical Investigation, 2025
Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families.
Oliver KL et al.
Ebiomedicine, 2024
Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?
Marques P et al.
Epilepsy Research, 2024
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY et al.
Jama Network Open, 2023
Clocking Epilepsies: A Chronomodulated Strategy-Based Therapy for Rhythmic Seizures.
Sun S et al.
International Journal of Molecular Sciences, 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
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
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure.
Grinton BE et al.
American Journal of Human Genetics, 2022
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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia.
Mojarad BA et al.
Translational Psychiatry, 2021
Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.
Ademuwagun IA et al.
Frontiers in Neurology, 2021
Excitatory and inhibitory neuron defects in a mouse model of Scn1b-linked EIEE52.
Hull JM et al.
Annals of Clinical and Translational Neurology, 2020
Identification of Undetected Monogenic Cardiovascular Disorders.
Abdulrahim JW et al.
Journal of the American College of Cardiology, 2020
Dramatic Improvement in Seizures With Phenytoin Treatment in an Individual With Refractory Epilepsy and a SCN1B Variant.
Dang LT et al.
Pediatric Neurology, 2020
Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia.
Maksemous N et al.
Biomedicines, 2020
An SCN1B Variant Affects Both Cardiac-Type (NaV1.5) and Brain-Type (NaV1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac Disorders.
Martinez-Moreno R et al.
Frontiers in Cell and Developmental Biology, 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
Scn1b deletion in adult mice results in seizures and SUDEP.
O'Malley HA et al.
Annals of Clinical and Translational Neurology, 2019
SCN1B and SCN2B gene variants analysis in dravet syndrome patients: Analysis of 22 cases.
Gong JE et al.
Medicine, 2019
Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era.
Calhoun JD et al.
Journal of Neurogenetics, 2018
A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage-dependent sodium channel.
Baroni D et al.
Human Mutation, 2018
The genetics and molecular biology of fever-associated seizures or epilepsy.
Deng H et al.
Expert Reviews in Molecular Medicine, 2018
Voltage-gated sodium channel β subunits: The power outside the pore in brain development and disease.
Hull JM et al.
Neuropharmacology, 2018
Differential roles of NaV1.2 and NaV1.6 in regulating neuronal excitability at febrile temperature and distinct contributions to febrile seizures.
Ye M et al.
Scientific Reports, 2018
Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.
Oyrer J et al.
Pharmacological Reviews, 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
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.
Butler KM et al.
Pediatric Neurology, 2017
Genetic epilepsy with febrile seizures plus: Refining the spectrum.
Zhang YH et al.
Neurology, 2017
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
Vagus nerve stimulation for genetic epilepsy with febrile seizures plus (GEFS+) accompanying seizures with impaired consciousness.
Hanaya R et al.
Epilepsy & Behavior Case Reports, 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
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
Neonatal and Infantile Epilepsy: Acquired and Genetic Models.
Galanopoulou AS et al.
Cold Spring Harbor Perspectives in Medicine, 2015
Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies.
Galanopoulou AS et al.
Neurobiology of Disease, 2015