Epilepsy research and treatment

Sleep deprivation exacerbates seizures and diminishes GABAergic tonic inhibition

The paper shows sleep deprivation worsens seizures and reduces GABAergic tonic inhibition in Kv1.1-/- mice, potentially leading to increased mortality.

Sexual dimorphism in epilepsy and comorbidities in Dravet syndrome mice carrying a targeted deletion of exon 1 of the Scn1a gene

This study investigates sex differences and long-term comorbidities in Scn1a(+/-)tm1Kea mice modeling Dravet Syndrome, finding sex-specific seizure patterns and reduced behavioral impairments in older mice.

Recurrent de novo single point mutation on the gene encoding Na+ /K+ pump results in epilepsy

The paper identifies a de novo mutation in ATP1A2 causing epilepsy in a family and creates a mouse model to study its effects on seizures and cognitive function.

Naming-related spectral responses predict neuropsychological outcome after epilepsy surgery

This study uses intracranial EEG during naming tasks to predict post-surgery language outcomes in epilepsy patients, finding that high gamma augmentation correlates with neuropsychological decline.

A systems-level analysis highlights microglial activation as a modifying factor in common forms of human epilepsy

The paper identifies microglial activation as a factor contributing to cortical thinning in epilepsy by integrating neuroimaging and gene expression data.

A Large-Scale Brain Network Mechanism for Increased Seizure Propensity in Alzheimer's Disease

This study uses EEG and computational modeling to show that AD brains are more prone to seizures due to altered large-scale network structure and increased cortical excitability.

Neural Fragility as an EEG Marker of the Seizure Onset Zone

The paper introduces and validates neural fragility as an EEG biomarker for identifying the seizure onset zone, showing higher prediction accuracy than clinician judgment.

A phenomenological model of neuroimmune interactions in epileptogenesis

This paper develops a computational model of neuroimmune interactions in epileptogenesis, showing how injury intensity and stochasticity influence seizure development and revealing multiple pathways to epilepsy.

Modeling Genetic Epileptic Encephalopathies using Brain Organoids

This study uses brain organoids to model WOREE, a severe epileptic encephalopathy, identifying CNS abnormalities and showing potential therapeutic rescue via WWOX expression.

Cerebellar Contribution To Absence Epilepsy

The paper investigates the role of cerebellar stimulation in absence epilepsy, finding that it transforms cortical discharges into prolonged spike-wave discharges and suppresses their bursts.

Genome-wide association study of febrile seizures identifies seven new loci implicating fever response and neuronal excitability genes

This study identifies seven new genetic loci associated with febrile seizures, linking them to fever response and neuronal excitability genes, and suggests potential clinical applications of polygenic risk scores.

Fly seizure EEG: field potential activity in the Drosophila brain

This paper describes a method to record local field potentials (LFPs) in Drosophila brains during seizures, revealing distinct LFP patterns associated with different seizure types.

Characterization of induction methods for Drosophila seizure mutations

The paper compares seizure-induction methods in Drosophila to identify the most effective for studying seizure-prone mutants.

Activity-dependent LTP in the dentate gyrus promotes epileptic seizures

The paper shows that initial seizures in mice increase mossy cell-granule cell synaptic transmission via BDNF-dependent LTP, which worsens seizures and suggests a mechanism for epileptogenesis.

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

The paper identifies de novo MAST3 variants in individuals with epilepsy, showing they may confer gain-of-function and are restricted to excitatory neurons in the cortex.

Computational characteristics of interictal EEG as objective markers of epileptic spasms

The paper identifies computational EEG features that distinguish epileptic spasms patients from controls with high accuracy.

Clinical and molecular diagnostic study of 320 Chinese children with epilepsy by Genome Sequencing

This study evaluates genome sequencing in 320 Chinese children with epilepsy, finding pathogenic variants in 38.13% and demonstrating its diagnostic and therapeutic value.

Proteomic signature of the Dravet syndrome in the genetic Scn1a-A1783V mouse model

The paper identifies proteomic changes in a Dravet syndrome mouse model, showing altered pathways related to seizures and neurodevelopment.

Gabra2 is a genetic modifier of Dravet syndrome in mice

This study identifies Gabra2 as a genetic modifier of Dravet syndrome in mice by showing that a deletion in Gabra2 worsens seizure and survival phenotypes in Scn1a+/- mice, which is reversed by repairing the deletion.

Development of an Antiepileptogenesis Drug Screening Platform: Effects of Everolimus and Phenobarbital

This paper describes a moderate-throughput drug screening platform in a rat model of temporal lobe epilepsy to evaluate antiepileptogenic agents, finding no significant effect of everolimus or phenobarbital on preventing spontaneous recurrent seizures.

Sublayer- and cell-type-specific neurodegenerative transcriptional trajectories in hippocampal sclerosis

The paper identifies sublayer- and cell-type-specific transcriptional changes in hippocampal sclerosis using single-nucleus and bulk RNA sequencing, revealing distinct neurodegenerative trajectories in superficial CA1 neurons.

RHEB/mTOR-hyperactivity causing cortical malformations drives seizures through increased axonal connectivity

This study shows that RHEB/mTOR hyperactivity causes cortical malformations and seizures through increased axonal connectivity, not just local malformations.

Systemic administration of Ivabradine, an HCN channel inhibitor, blocks spontaneous absence seizures

This study shows that systemic ivabradine, an HCN channel inhibitor, reduces absence seizures in rats, suggesting its potential as a new treatment for this condition.

Inhibitory synaptic transmission is impaired at higher extracellular Ca2+ concentrations in Scn1a+/- mouse model of Dravet syndrome

This study shows that inhibitory synaptic transmission is impaired in Scn1a+/- mice, with reduced inhibitory synapses and increased sensitivity to extracellular Ca2+.

Astrocyte Ca2+ Signaling is Facilitated in an Scn1a+/- Mouse Model of Dravet Syndrome

This study shows that astrocyte Ca2+ signaling is enhanced in Scn1a+/- mice, suggesting a role for astrocytic Ca2+ dysregulation in Dravet syndrome pathogenesis.

Fluctuations in functional connectivity associated with interictal epileptiform discharges (IEDs) in intracranial EEG

This study examines how interictal epileptiform discharges (IEDs) affect functional connectivity in intracranial EEG data across different frequency bands and identifies key predictors of these changes.

A novel mouse model of focal limbic seizures that reproduces behavioral impairment associated with cortical slow wave activity

This paper describes a novel mouse model of focal limbic seizures that correlates behavioral impairment with cortical slow wave activity, similar to human temporal lobe seizures.

Region-specific effects of early-life status epilepticus on the adult hippocampal CA3 - medial entorhinal cortex circuitry in vitro: focus on interictal spikes and concurrent high-frequency oscillations.

This study examines how early-life status epilepticus affects adult hippocampal-entorhinal circuitry in vitro, finding altered high-frequency oscillations and interictal discharge patterns.

Enhanced synaptic transmission in the extended amygdala and altered excitability in an extended amygdala to brainstem circuit in a Dravet syndrome mouse model

This study investigates altered excitability in the bed nucleus of the stria terminalis (BNST) and its projections to the parabrachial nucleus in a Dravet syndrome mouse model, linking these changes to potential comorbidities like respiratory dysfunction.

Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice

This study shows that deleting a non-canonical regulatory region of Scn1a in mice leads to reduced Scn1a expression and epileptic symptoms.