Associated Papers
Ameliorating Seizures in Dravet Syndrome: A Review of Newly Approved and Investigational Drugs, RNA and Gene-Based Therapies.
Balestrini S et al.
Cns Drugs, 2026
Multiomic Analyses Reveal Brainstem Metabolic Changes in a Mouse Model of Dravet Syndrome.
Sri Hari A et al.
Cells, 2025
Transforming refractory epilepsy management: Trio-WES for enhanced genetic diagnosis and prognosis in children.
Chen Y et al.
Seizure, 2025
Precision medicine for sodium channelopathy-related autism and epilepsy.
Robinson M et al.
Trends in Molecular Medicine, 2025
Developmental progression of respiratory dysfunction in a mouse model of Dravet syndrome.
Milla BM et al.
Jci Insight, 2025
Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.
Hammer MF
Bioscience Reports, 2025
Depolarization block induction via slow NaV1.1 inactivation in Dravet syndrome.
Lemaire L et al.
Scientific Reports, 2025
Neurodevelopmental defects in Dravet syndrome Scn1a+/- mice: Targeting GABA-switch rescues behavioral dysfunctions but not seizures and mortality.
Pizzamiglio L et al.
Neurobiology of Disease, 2025
Investigation in blood-brain barrier integrity and susceptibility to immune cell penetration in a mouse model of Dravet syndrome.
Alonso C et al.
Brain, Behavior, & Immunity - Health, 2025
Dravet syndrome: novel insights into SCN1A-mediated epileptic neurodevelopmental disorders within the molecular diagnostic-therapeutic framework.
Zhang G et al.
Frontiers in Neuroscience, 2025
Scn1a haploinsufficiency in the prefrontal cortex leads to cognitive impairment and depressive phenotype.
Riga MS et al.
Brain : a Journal of Neurology, 2024
Metabolic aspects of genetic ion channel epilepsies.
Neal ES et al.
Journal of Neurochemistry, 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
Temporal manipulation of the Scn1a gene reveals its essential role in adult brain function.
Di Berardino C et al.
Brain : a Journal of Neurology, 2024
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Gallagher D et al.
Epilepsia, 2024
Targeted Molecular Strategies for Genetic Neurodevelopmental Disorders: Emerging Lessons from Dravet Syndrome.
Lersch R et al.
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2023
Preferential expression of SCN1A in GABAergic neurons improves survival and epileptic phenotype in a mouse model of Dravet syndrome.
Ricobaraza A et al.
Journal of Molecular Medicine (berlin, Germany), 2023
Transcranial static magnetic stimulation reduces seizures in a mouse model of Dravet syndrome.
Rivadulla C et al.
Experimental Neurology, 2023
A hyperthermic seizure unleashes a surge of spreading depolarizations in Scn1a-deficient mice.
Aiba I et al.
Jci Insight, 2023
Viral vector-mediated expression of NaV1.1, after seizure onset, reduces epilepsy in mice with Dravet syndrome.
Fadila S et al.
The Journal of Clinical Investigation, 2023
Predicting functional effects of ion channel variants using new phenotypic machine learning methods.
Boßelmann CM et al.
Plos Computational Biology, 2023
Retinal Tissue Shows Glial Changes in a Dravet Syndrome Knock-in Mouse Model.
Salazar JJ et al.
International Journal of Molecular Sciences, 2023
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
Guerrini R et al.
Physiological Reviews, 2023
Exploring the genetic landscape of diphtheria, tetanus and pertussis vaccination-associated seizures or subsequent epilepsies.
Negi S et al.
The Lancet Regional Health. Southeast Asia, 2023
Heterozygous deletion of Gpr55 does not affect a hyperthermia-induced seizure, spontaneous seizures or survival in the Scn1a+/- mouse model of Dravet syndrome.
Anderson LL et al.
Plos One, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
SCN1A channelopathies: Navigating from genotype to neural circuit dysfunction.
Bryson A et al.
Frontiers in Neurology, 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
Therapeutic effects of KRM-II-81, positive allosteric modulator for α2/3 subunit containing GABAA receptors, in a mouse model of Dravet syndrome.
Nakakubo S et al.
Frontiers in Pharmacology, 2023
Successful treatment of adult Dravet syndrome patients with cenobamate.
Makridis KL et al.
Epilepsia, 2022
Behavioral phenotyping of young Scn1a haploinsufficient mice.
Reiber M et al.
Epilepsy & Behavior : E&b, 2022
Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing.
Zhao X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
Transfer of SCN1A to the brain of adolescent mouse model of Dravet syndrome improves epileptic, motor, and behavioral manifestations.
Mora-Jimenez L et al.
Molecular Therapy. Nucleic Acids, 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
[Genetics Analysis of patients with Dravet syndrome due to mosaicism variation of paternal SCN1A gene].
Huo MZ et al.
Zhonghua Yi Xue Za Zhi, 2021
Recent advances in gene therapy for neurodevelopmental disorders with epilepsy.
Turner TJ et al.
Journal of Neurochemistry, 2021
Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy.
Gorman KM et al.
Brain Communications, 2021