Associated Papers
Precision medicine for sodium channelopathy-related autism and epilepsy.
Robinson M et al.
Trends in Molecular Medicine, 2025
Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.
Hammer MF
Bioscience Reports, 2025
Voltage-Gated Sodium Channel Dysfunction in Epilepsy: Zebrafish Models for Therapeutics.
Gyamfi A et al.
Biomedicines, 2025
Surgical decision-making in adult patients with epilepsy related to germline mutations: A single-center study.
Podkorytova I et al.
The Journal of International Medical Research, 2025
To what extent does status epilepticus contribute to brain damage in the developmental and epileptic Encephalopathies.
Specchio N et al.
Epilepsy & Behavior : E&b, 2025
Rodent models of genetic epilepsy and its association with neurocognitive impairment- a systematic review.
Foo RYN et al.
Frontiers in Pharmacology, 2025
Metabolic aspects of genetic ion channel epilepsies.
Neal ES et al.
Journal of Neurochemistry, 2024
Voltage-gated sodium channels in genetic epilepsy: up and down of excitability.
Rusina E et al.
Journal of Neurochemistry, 2024
Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families.
Oliver KL et al.
Ebiomedicine, 2024
Voltage-Gated Ion Channel Compensatory Effect in DEE: Implications for Future Therapies.
Shabani K et al.
Cells, 2024
The cannabinoid CB2 receptor positive allosteric modulator EC21a exhibits complicated pharmacology in vitro.
Qi A et al.
Journal of Receptor and Signal Transduction Research, 2024
Preictal dysfunctions of inhibitory interneurons paradoxically lead to their rebound hyperactivity and to low-voltage-fast onset seizures in Dravet syndrome.
Capitano F et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations.
Veltra D et al.
International Journal of Molecular Sciences, 2024
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
Lyu H et al.
Ebiomedicine, 2023
Mapping Structural Distribution and Gating-Property Impacts of Disease-Associated Missense Mutations in Voltage-Gated Sodium Channels.
Ahangar AA et al.
Biorxiv : the Preprint Server for Biology, 2023
Voltage-Gated Sodium Channel Dysfunctions in Neurological Disorders.
Barbieri R et al.
Life (basel, Switzerland), 2023
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
Guerrini R et al.
Physiological Reviews, 2023
Drosophila melanogaster as a versatile model organism to study genetic epilepsies: An overview.
Fischer FP et al.
Frontiers in Molecular Neuroscience, 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
Loss or gain of function? Effects of ion channel mutations on neuronal firing depend on the neuron type.
Koch NA et al.
Frontiers in Neurology, 2023
An SCN1A gene missense variant in a Chinese Tujia ethnic family with genetic epilepsy with febrile seizures plus.
Li L et al.
Frontiers in Neurology, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
NaV1.1 haploinsufficiency impairs glutamatergic and GABAergic neuron function in the thalamus.
Studtmann C et al.
Neurobiology of Disease, 2022
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.
Musante L et al.
Genes, 2022
Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases.
Chen C et al.
Frontiers in Molecular Neuroscience, 2022
Perspectives on the basis of seizure-induced respiratory dysfunction.
Mulkey DK et al.
Frontiers in Neural Circuits, 2022
Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model.
Auffenberg E et al.
The Journal of Clinical Investigation, 2021
Sodium channelopathies of skeletal muscle and brain.
Mantegazza M et al.
Physiological Reviews, 2021
Modeling NaV1.1/SCN1A sodium channel mutations in a microcircuit with realistic ion concentration dynamics suggests differential GABAergic mechanisms leading to hyperexcitability in epilepsy and hemiplegic migraine.
Lemaire L et al.
Plos Computational Biology, 2021
Advances in the design and discovery of novel small molecule drugs for the treatment of Dravet Syndrome.
Miziak B et al.
Expert Opinion on Drug Discovery, 2021
Neddylation stabilizes Nav1.1 to maintain interneuron excitability and prevent seizures in murine epilepsy models.
Chen W et al.
The Journal of Clinical Investigation, 2021
Recent advances in gene therapy for neurodevelopmental disorders with epilepsy.
Turner TJ et al.
Journal of Neurochemistry, 2021
Sodium channelopathies in neurodevelopmental disorders.
Meisler MH et al.
Nature Reviews. Neuroscience, 2021
Nanoparticle encapsulated oxytocin increases resistance to induced seizures and restores social behavior in Scn1a-derived epilepsy.
Wong JC et al.
Neurobiology of Disease, 2021
Deciphering in silico the Role of Mutated Na V 1.1 Sodium Channels in Enhancing Trigeminal Nociception in Familial Hemiplegic Migraine Type 3.
Suleimanova A et al.
Frontiers in Cellular Neuroscience, 2021
Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy.
Gorman KM et al.
Brain Communications, 2021
Channelopathy of Dravet Syndrome and Potential Neuroprotective Effects of Cannabidiol.
Xu C et al.
Journal of Central Nervous System Disease, 2021
SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.
Ding J et al.
Frontiers in Neurology, 2021
Convulsive seizures and some behavioral comorbidities are uncoupled in the Scn1aA1783V Dravet syndrome mouse model.
Fadila S et al.
Epilepsia, 2020
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.
Brunklaus A et al.
Human Mutation, 2020
Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation.
Nakajima T et al.
Channels (austin, Tex.), 2019
Reduced cannabinoid 2 receptor activity increases susceptibility to induced seizures in mice.
Shapiro L et al.
Epilepsia, 2019
SCN1A/NaV 1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models.
Mantegazza M et al.
Epilepsia, 2019