Epilepsy research and treatment

This paper investigates how NaV1.1 haploinsufficiency affects thalamocortical circuit function in a Dravet syndrome mouse model, revealing input-specific synaptic and intrinsic changes in thalamic neurons.

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

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.

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.

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.

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

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.

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

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.

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

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.

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.

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.

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

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.

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.

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

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

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

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.

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.

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.

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

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.

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

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

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.

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.

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

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.