Epilepsy research and treatment

Analysis of Flurothyl-induced Seizures and Epileptogenesis in Mice with Targeted Deletions of Exons 3 and 4 in Dock7

This study investigates the role of Dock7 in seizure susceptibility using a flurothyl kindling model in mice, finding no significant differences in seizure thresholds between Dock7 knockout and wild-type mice.

Inhibition of CKAMP44 attenuated seizure activity via protein phosphatase 3 regulatory subunit B-mediated GluA1 phosphorylation and synaptic transmission

This study shows that inhibiting CKAMP44 reduces seizure activity in TLE by increasing GluA1 phosphorylation and synaptic transmission through PPP3r2 regulation.

Abnormal Elevated Connectivity During Language Processing is Associated with Poor Cognitive Performance in Children with Self-limited Epilepsy with Centrotemporal Spikes

The paper finds that children with SeLECTS show elevated motor-language connectivity during language tasks, which predicts worse phonological awareness.

Characterization and application of hyperthermia-evoked seizures in a mouse model of focal cortical dysplasia

This study shows that hyperthermia reliably triggers seizures in a mouse model of focal cortical dysplasia, enabling testing of therapeutic interventions.

Temporal Dynamics of BOLD fMRI Predict Intracranially-Confirmed Seizure Onset Zones in Drug-Resistant Epilepsy

This study uses resting-state fMRI to predict seizure onset zones in drug-resistant epilepsy patients, achieving high accuracy in identifying epileptogenic regions non-invasively.

Dual role of Spreading Depolarization in the epileptic focus

This study investigates the dual role of spreading depolarization (SD) in epileptic activity, finding it can both promote and suppress seizures depending on spatial positioning.

Severity-dependent proteomic alterations in the rat hippocampus following pilocarpine-induced status epilepticus

This study identifies distinct proteomic changes in rat hippocampus based on seizure severity following pilocarpine-induced status epilepticus.

Somatic variants activating the RAS-MAPK pathway confer susceptibility to hippocampal sclerosis in drug-resistant epilepsy

The paper identifies somatic RAS-MAPK pathway activating variants in hippocampal sclerosis patients, linking them to seizure-induced injury and suggesting therapeutic targets.

Whole-brain cellular-resolution functional network properties of seizure susceptibility

This study uses calcium imaging and network analysis in zebrafish to identify cellular-resolution network properties linked to seizure susceptibility and risk prediction.

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity

The paper analyzes a large DNM1 cohort to identify mutational hotspots and genotype-phenotype correlations in DNM1-related disorder.

Decoupled calcium homeostasis and signaling associated with cytoskeletal instability in YWHAG R132C induced pluripotent stem cell-derived cortical neurons

This study investigates YWHAG R132C mutations in iPSC-derived cortical neurons, revealing decoupled calcium homeostasis and signaling linked to cytoskeletal instability.

Isoform-Resolved Genetic Architecture of Epilepsy and SUDEP Reveals Divergent Brain and Heart Channelopathy Signatures

The paper identifies tissue- and isoform-level genetic regulation differences between epilepsy and SUDEP, revealing distinct cardiac and neuronal gene expression patterns.

Kainate receptors are critical for permissivity to sustained, disorganized, and network-wide pathological activity in the epileptic dentate gyrus

This study shows that kainate receptors (KARs) enable sustained pathological activity in the epileptic dentate gyrus by altering network dynamics and promoting disorganized firing patterns.

Heterogeneity of ictal firing during generalized seizures in the awake cortex

The paper examines cortical neuron firing patterns during absence seizures in awake rodents, finding structured heterogeneity rather than generalized hyperexcitability.

Passive neuromodulation: an energy-driven mechanism for closed-loop suppression of epileptic seizure

This paper introduces passive neuromodulation as a method to suppress epileptic seizures by draining energy from neural circuits, showing its efficacy in computational models.

Functional Connectivity in Self-limited Epilepsy with Centrotemporal Spikes (SeLECTS) Increases with Epilepsy Duration and Interictal Spike Exposure.

This study shows that functional connectivity in children with SeLECTS increases with epilepsy duration and interictal spike exposure, suggesting spikes drive neural network changes.

Underutilization of Syndrome-Specific ICD-10 Codes for Genetic Epilepsies: Implications for Precision Medicine

This study evaluates the underutilization of syndrome-specific ICD-10 codes for monogenic epilepsies in clinical practice, finding that less than two-thirds of patients with molecular diagnoses were assigned these codes.

Seizures, increased interhemispheric synchrony, altered brain transcriptomics and a leaky blood-brain barrier result from loss of ap3b2 in a CRISPR tadpole model of DEE48

Tissue Oxygenation Dynamics During Seizure to Spreading Depolarization in Rat Brain

This study investigates the relationship between seizures and spreading depolarization (SD) in rats, finding that extracellular space (ECS) shrinkage, not oxygenation breakdown, precedes SD during seizure transitions.

Molecular characterization of the heterozygous loss of function mutations in the X-linked PCDH19 gene causing PCDH19-Cluster Epilepsy

The paper investigates PCDH19-Cluster Epilepsy by generating mouse and human models, identifying differentially expressed genes and morphological changes linked to PCDH19 mutations.

Prediction of treatment response in infantile epileptic spasms syndrome using EEG phase-amplitude coupling

The paper predicts treatment response in infantile epileptic spasms syndrome using EEG phase-amplitude coupling, finding that lower pre-treatment modulation index values correlate with better treatment outcomes.

Single Cell Transcriptomics of Refractory Epilepsy patients in Colombia

This study analyzes single-cell transcriptomics data from five pediatric refractory epilepsy patients in Colombia, identifying glia-driven dysregulation and neuroinflammatory processes.

Comprehensive transcriptomic and proteomic profiling of mTOR-related epilepsy

The paper integrates transcriptomic and proteomic data from mTOR-related epilepsy patients to identify impaired oxidative phosphorylation as a molecular hallmark.

Electrophysiologically Targeted Biopsies Reveal the Transcriptional Landscape of Focal Epilepsy

This study uses electrophysiologically guided biopsies and single-nucleus RNA sequencing to identify transcriptional differences between seizure focus and ictal penumbra in focal epilepsy.

Unstable Slow Oscillations Couple with Epileptogenic Fast-Rhythm Bistability in Sleep-Related Epilepsy: An SEEG Study

This study investigates the relationship between delta-band synchrony and beta-gamma bistability in sleep-related epilepsy, finding they synergistically contribute to seizure generation.

Reduced activity of nucleus accumbens parvalbumin-expressing fast- spiking inhibitory neurons causes convulsive seizures

The paper identifies nucleus accumbens parvalbumin-expressing fast-spiking inhibitory neurons as critical for convulsive seizure generation in mice with STXBP1 or SCN2A mutations.

Precision mapping and molecular contextualization of surgical outcome epicenters in temporal lobe epilepsy

The paper identifies patient-specific structural deviations and disease epicenters in temporal lobe epilepsy using multimodal MRI data, linking resection overlap with seizure freedom.

Thalamocortical network dynamics in focal epilepsy: SEEG investigation

This study investigates thalamocortical network dynamics in focal epilepsy using SEEG data, finding that thalamic aperiodic slope changes correlate with seizure propagation and feedback mechanisms.

Enhancing KCC2 function reduces interictal activity and prevents seizures in mesial temporal lobe epilepsy

This study identifies two compounds that enhance KCC2 function, reducing interictal activity and preventing seizures in mesial temporal lobe epilepsy.

Characterizing SCN1A-Related Disorders Using Real-World Data Across 681 Patient-Years

This study characterizes SCN1A-related disorders using real-world data from 100 individuals over 681 patient-years, detailing seizure patterns, comorbidities, and treatment changes.