Epilepsy research and treatment

Acute effect of antiseizure drugs on background oscillations in Scn1aA1783V Dravet syndrome mouse model

This study examines the acute effects of antiseizure drugs on background neuronal oscillations in a Dravet syndrome mouse model, finding that some drugs reduce interictal spikes and alter frequency bands while others do not.

Developmental Characterization of Neuronal Migration Anomalies and Axon Proliferation in mTOR pathway-associated Malformations of Cortical Development

This study uses in utero electroporation to induce mTOR pathway dysregulation in rodents, revealing early developmental abnormalities in neuronal migration and axon proliferation linked to malformations of cortical development.

Disease-modifying effects of sodium selenate in a model of drug-resistant, temporal lobe epilepsy.

This study shows sodium selenate reduces seizures, cognitive dysfunction, and sensorimotor deficits in a rat model of chronic drug-resistant temporal lobe epilepsy.

Modulation of locus coeruleus neurons and strong release of noradrenaline during acute hippocampal seizures in rats

Microglia play beneficial roles in multiple experimental seizure models.

This study demonstrates that microglia have a beneficial role in reducing various types of seizures using a targeted approach.

Computation of longitudinal phenotypes in 466 individuals with a developmental and epileptic encephalopathy enables clinical trial readiness

The paper computes longitudinal phenotypes in 466 individuals with developmental and epileptic encephalopathies to improve clinical trial readiness using electronic health records.

Biophysical characterization and modeling of SCN1A gain-of-function predicts interneuron hyperexcitability and a predisposition to network instability through homeostatic plasticity

This study characterizes SCN1A gain-of-function variants and models their impact on interneuron hyperexcitability and network instability through homeostatic plasticity in early-onset epileptic encephalopathies.

Distinctive in vitro phenotypes in iPSC-derived neurons from patients with gain- and loss-of-function SCN2A developmental and epileptic encephalopathy

This study compares iPSC-derived neurons from patients with gain- and loss-of-function SCN2A variants, finding distinct electrophysiological and transcriptomic changes associated with different disease presentations.

The genetic spectrum of febrile infection-related epilepsy syndrome (FIRES) and refractory status epilepticus

This paper analyzes the clinical and genetic landscape of FIRES and RSE, finding 36% of RSE patients have genetic causes, while FIRES remains largely undiagnosed.

Atypical intrinsic neural timescales in temporal lobe epilepsy

This study identifies atypical intrinsic neural timescales in temporal lobe epilepsy, showing reduced timescales in multiple brain regions and high accuracy in classifying patients and lateralizing seizure foci.

Prefrontal PV interneurons facilitate attention and are linked to attentional dysfunction in a mouse model of absence epilepsy

The paper investigates the role of prefrontal parvalbumin interneurons in attention and links their dysfunction to attentional impairments in a mouse model of absence epilepsy.

RGS14 is neuroprotective against seizure-induced mitochondrial oxidative stress and pathology in hippocampus

This study shows RGS14 protects hippocampal neurons from seizure-induced mitochondrial oxidative stress and pathology by modulating excitability and signaling.

Higher-order thalamic nuclei facilitate the generalization and maintenance of spike-and-wave discharges in absence seizures

This study investigates how higher-order thalamic nuclei contribute to the spread and maintenance of spike-and-wave discharges in absence seizures using GAERS models.

The intrinsic clock of the hippocampal subfield CA3 rescues limbic seizures in a biohybrid graft-host interaction in vitro

This paper demonstrates that interictal activity from hippocampal CA3 grafts can control limbic seizures in a biohybrid graft-host setup in vitro.

The role of rare genetic variants enrichment in epilepsies of presumed genetic etiology

The paper identifies rare genetic variants associated with different epilepsy types, finding the most enrichment in non-acquired focal epilepsy.

All-optical interrogation of excitability during seizure propagation reveals high local inhibition amidst baseline excitability

The paper investigates excitability during seizure propagation in the brain, finding that single-cell excitability remains baseline while local inhibition occurs near the seizure wavefront.

Hippocampal area CA2 controls seizure dynamics, interictal EEG abnormalities and social comorbidity in mouse models of temporal lobe epilepsy

This study shows that real-time optogenetic silencing of hippocampal CA2 neurons reduces seizures, interictal EEG abnormalities, and social comorbidities in mouse models of temporal lobe epilepsy.

Early suppression of excitability in subcortical band heterotopia modifies epileptogenesis in rats

This study investigates how early suppression of neuronal excitability in a rat model of subcortical band heterotopia affects epileptogenesis and seizure progression.

Comprehensive multiomic profiling of somatic mutations in malformations of cortical development

This study identifies 69 mutated genes in malformations of cortical development using multiomic profiling of 317 brain resections and single-cell sequencing.

A disease concept model for STXBP1-related disorders

This paper develops a disease concept model for STXBP1-related disorders by analyzing qualitative interviews to map symptoms and their impacts across clinical domains and age groups.

Decreased overall neuronal activity in a rodent model of impaired consciousness during absence seizures

The paper investigates neuronal activity patterns in a rodent model of absence seizures, finding decreased overall firing with distinct neuronal activity patterns during seizures.

Developing hippocampal spheroids model ictogenesis and epileptogenesis

This study shows that rodent hippocampal spheroids spontaneously develop epileptiform activity, resembling human and animal epilepsy models, and highlights potential risks of cell-based therapies.

Sleep increases firing rate modulation during interictal epileptic activities in mesial structures

This study examines how sleep stages affect neuronal firing rates during interictal epileptic activities in mesial temporal structures, finding increased firing rate modulation in deeper NREM sleep.

Sleep slow-wave oscillations trigger seizures in a genetic epilepsy model of Dravet syndrome

This study shows that slow-wave oscillations trigger seizures in a Dravet syndrome mouse model, with increased incidence in female mice.

Precision medicine for developmental and epileptic encephalopathies in Africa: strategies for a resource-limited setting.

The paper identifies genetic variants in South African children with developmental and epileptic encephalopathies and proposes a 'Think-Genetics' strategy for early genetic diagnosis in resource-limited settings.

Expression of mRNA encoding two gain-of-function cyfip2 variants associated with DEE65 results in spontaneous seizures in Xenopus laevis tadpoles

This study shows that overexpression of two gain-of-function CYFIP2 variants in Xenopus laevis tadpoles causes spontaneous seizures, with one variant responding to valproate treatment.

Multi-modal characterization and simulation of human epileptic circuitry

This study characterizes and simulates changes in human hippocampal granule cells during epilepsy progression, identifying ion channel modifications that increase excitability.

Targeting aberrant dendritic integration to treat cognitive comorbidities of epilepsy

The paper identifies a Na+ channel-dependent mechanism in hippocampal dendrites that contributes to spatial memory deficits in epilepsy and shows that targeting Nav1.3 channels can reverse these deficits.

Sensory regulation of absence seizures in a mouse model of Gnb1 encephalopathy

This study shows that sensory input regulates absence seizures in Gnb1 mutant mice by modulating thalamocortical pathway activity.

Multi-scale structural alterations of the thalamus and basal ganglia in focal epilepsy as demonstrated by 7T MRI

This study identifies multi-scale structural changes in the thalamus and basal ganglia of focal epilepsy patients using 7T MRI, showing their dependence on epileptogenic zones and clinical features.