Associated Papers
Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
Chałupczyńska B et al.
Genes, 2026
The molecular basis of KCNH1-related epileptic encephalopathy and the challenge of developing targeted therapeutics.
Sundman AK et al.
Brain : a Journal of Neurology, 2026
From Symptomatic Therapies to Disease-Modifying Approaches for Neuronal Sodium Channel Disorders.
Dinoi G et al.
International Journal of Molecular Sciences, 2025
Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.
Hammer MF
Bioscience Reports, 2025
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.
LaFlamme CW et al.
Epilepsia, 2025
Metabolic aspects of genetic ion channel epilepsies.
Neal ES et al.
Journal of Neurochemistry, 2024
Impact of variant subtype on electro-clinical phenotype of Dravet syndrome- a South Indian cohort study.
Krishna S et al.
Seizure, 2024
Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome.
Teralı K et al.
Clinical and Translational Science, 2024
A hyperthermic seizure unleashes a surge of spreading depolarizations in Scn1a-deficient mice.
Aiba I et al.
Jci Insight, 2023
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
Guerrini R et al.
Physiological Reviews, 2023
Heat-induced seizures, premature mortality, and hyperactivity in a novel Scn1a nonsense model for Dravet syndrome.
Mavashov A et al.
Frontiers in Cellular Neuroscience, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
NaV1.1 haploinsufficiency impairs glutamatergic and GABAergic neuron function in the thalamus.
Studtmann C et al.
Neurobiology of Disease, 2022
Cell-Selective Adeno-Associated Virus-Mediated SCN1A Gene Regulation Therapy Rescues Mortality and Seizure Phenotypes in a Dravet Syndrome Mouse Model and Is Well Tolerated in Nonhuman Primates.
Tanenhaus A et al.
Human Gene Therapy, 2022
TAU ablation in excitatory neurons and postnatal TAU knockdown reduce epilepsy, SUDEP, and autism behaviors in a Dravet syndrome model.
Shao E et al.
Science Translational Medicine, 2022
Functional Investigation of a Neuronal Microcircuit in the CA1 Area of the Hippocampus Reveals Synaptic Dysfunction in Dravet Syndrome Mice.
Almog Y et al.
Frontiers in Molecular Neuroscience, 2022
Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country.
Akbar F et al.
Epilepsy & Behavior Reports, 2022
Perspectives on the basis of seizure-induced respiratory dysfunction.
Mulkey DK et al.
Frontiers in Neural Circuits, 2022
The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.
Ko YJ et al.
Journal of Epilepsy Research, 2021
Soticlestat, a novel cholesterol 24-hydroxylase inhibitor, reduces seizures and premature death in Dravet syndrome mice.
Hawkins NA et al.
Epilepsia, 2021
Sodium channelopathies of skeletal muscle and brain.
Mantegazza M et al.
Physiological Reviews, 2021
Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.
Michorowska S
Pharmaceuticals (basel, Switzerland), 2021
Epileptic Mechanisms Shared by Alzheimer's Disease: Viewed via the Unique Lens of Genetic Epilepsy.
Kang JQ
International Journal of Molecular Sciences, 2021
Development of an antiseizure drug screening platform for Dravet syndrome at the NINDS contract site for the Epilepsy Therapy Screening Program.
Pernici CD et al.
Epilepsia, 2021
The brain-heart interaction in epilepsy: implications for diagnosis, therapy, and SUDEP prevention.
Costagliola G et al.
Annals of Clinical and Translational Neurology, 2021
Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants.
Rampazzo ACM et al.
Neurogenetics, 2021
Recent advances in gene therapy for neurodevelopmental disorders with epilepsy.
Turner TJ et al.
Journal of Neurochemistry, 2021
Atypical myelinogenesis and reduced axon caliber in the Scn1a variant model of Dravet syndrome: An electron microscopy pilot study of the developing and mature mouse corpus callosum.
Richards K et al.
Brain Research, 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
CRISPR/dCas9-based Scn1a gene activation in inhibitory neurons ameliorates epileptic and behavioral phenotypes of Dravet syndrome model mice.
Yamagata T et al.
Neurobiology of Disease, 2020
Tau Reduction Prevents Key Features of Autism in Mouse Models.
Tai C et al.
Neuron, 2020
Adolescent behavioral abnormalities in a Scn1a+/- mouse model of Dravet syndrome.
Bahceci D et al.
Epilepsy & Behavior : E&b, 2020
dCas9-Based Scn1a Gene Activation Restores Inhibitory Interneuron Excitability and Attenuates Seizures in Dravet Syndrome Mice.
Colasante G et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2020
Identification of potential candidate genes and pathways in atrioventricular nodal reentry tachycardia by whole-exome sequencing.
Luo R et al.
Clinical and Translational Medicine, 2020
Predicting the impact of sodium channel mutations in human brain disease.
Noebels JL
Epilepsia, 2019
SCN1A/NaV 1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models.
Mantegazza M et al.
Epilepsia, 2019
A more efficient conditional mouse model of Dravet syndrome: Implications for epigenetic selection and sex-dependent behaviors.
Williams AD et al.
Journal of Neuroscience Methods, 2019
Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.
de Lange IM et al.
Journal of Medical Genetics, 2019
Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome.
Ritter-Makinson S et al.
Cell Reports, 2019
Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.
He N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 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
Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes.
Frasier CR et al.
Stem Cell Reports, 2018
A Transient Developmental Window of Fast-Spiking Interneuron Dysfunction in a Mouse Model of Dravet Syndrome.
Favero M et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2018
Selective NaV1.1 activation rescues Dravet syndrome mice from seizures and premature death.
Richards KL et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018