Epilepsy research and treatment

Exogenous Nav1.1 activity in excitatory and inhibitory neurons reverts Dravet syndrome comorbidities when delivered post-symptom onset in mice with Dravet

This study shows that delivering a modified SCN1A gene via viral vectors to DS mice improves survival, reduces seizures, and corrects brain activity after symptom onset.

Detection of brain somatic variation in epilepsy-associated developmental lesions

The paper identifies somatic and germline genetic variations in brain tissue from children with epilepsy-associated developmental lesions, highlighting new candidate genes and structural variations.

Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture

This study conducts a genome-wide meta-analysis of over 29,000 people with epilepsy, identifying 26 loci and revealing subtype-specific genetic architectures.

Panx1 channels promote both anti- and pro-seizure-like activities in the zebrafish via p2rx7 receptors and ATP signaling

This study shows that Panx1 channels in zebrafish have both anti- and pro-seizure effects through p2rx7 receptors and ATP signaling.

CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate

This study identifies CUX2 and CASP variants in temporal lobe epilepsy patients and shows they increase seizure susceptibility and excitatory synaptic transmission.

Resilience through diversity: Loss of neuronal heterogeneity in epileptogenic human tissue impairs network resilience to sudden changes in synchrony

The paper shows that reduced neuronal heterogeneity in epileptogenic tissue decreases network resilience to synchrony changes, leading to seizure-like dynamics.

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

The paper reports a cohort of 17 patients with pathogenic KCNH5 variants causing neurodevelopmental disorders and epilepsy, identifying genotype-phenotype correlations.

Epileptiform GluN2B-driven excitation in hippocampus as a therapeutic target against temporal lobe epilepsy

This study investigates the role of GluN2B-containing NMDARs in temporal lobe epilepsy and suggests ifenprodil as a potential antiepileptic treatment.

Clemizole and Trazodone are Effective Antiseizure Treatments in a Zebrafish Model of STXBP1 Disorder

The paper tests antiseizure drugs in a zebrafish model of STXBP1 disorder, finding clemizole and trazodone reduce seizure-like events by 80% and 83%.

Mosaic and non-mosaic pcdh19 mutation leads to neuronal hyperexcitability in zebrafish

This study shows that both mosaic and non-mosaic pcdh19 mutations in zebrafish lead to neuronal hyperexcitability, challenging the idea that mosaicism alone causes PCDH19-related epilepsy.

SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy

This study identifies genetic loci associated with impulsivity in juvenile myoclonic epilepsy and links them to synaptic assembly genes and SLCO5A1 function.

A python-based package for long-lasting video acquisition and semi-automated detection of convulsive seizures in rodents

The paper introduces an open-source Python package for automated video acquisition and semi-automated detection of convulsive seizures in rodents with high accuracy.

A deep learning-based automated closed-loop optogenetic system for neuromodulation during seizures

This paper presents a deep learning-based closed-loop optogenetic system for seizure detection and neuromodulation, showing improved detection and reduced false positives in vivo.

Time-limited alterations in cortical activity of a Knock-in mice model of KCNQ2-related Developmental and Epileptic Encephalopathy

This study investigates the developmental changes in neuronal activity in a KCNQ2 knock-in mouse model, finding time-limited alterations in excitability and M-current density that resolve with maturation.

A Rat Model of a Focal Mosaic Expression of PCDH19 Replicates Human Brain Developmental Abnormalities and Behaviors

This study creates a rat model with focal mosaic Pcdh19 expression, replicating brain developmental abnormalities and behaviors seen in human EIEE9.

Transcriptomic analysis of dorsal and ventral subiculum after induction of acute seizures by electric stimulation of the perforant pathway in rats

This study identifies differentially expressed genes in dorsal and ventral subiculum of rats after preconditioning with perforant pathway stimulation, revealing changes in cholesterol metabolism, synaptic reorganization, and neuroprotection.

Hypothalamic-pituitary-adrenal axis dysfunction worsens epilepsy outcomes and increases SUDEP risk

This study shows that HPA axis dysfunction in a mouse model increases SUDEP risk and worsens epilepsy outcomes, with potential implications for psychiatric comorbidities.

Clinical Characteristics and Treatment Experience of Individuals with SCN8A Developmental and Epileptic Encephalopathy (SCN8A-DEE): Findings from an Online Caregiver Survey

This study surveys caregivers of SCN8A-DEE patients to describe clinical features and treatment challenges, finding high seizure burden, multiple comorbidities, and limited effective therapies.

Targeting neuronal homeostasis to prevent seizures

This study identifies a novel anticonvulsant compound that targets neuronal homeostasis by increasing Pumilio expression, showing efficacy in Drosophila and mouse seizure models.

Developmentally-regulated impairment of parvalbumin interneuron synaptic transmission in an experimental model of Dravet syndrome

This study shows that impaired spike generation and synaptic transmission in parvalbumin interneurons contribute to Dravet syndrome severity and chronic pathology in an experimental model.

Corticohippocampal circuit dysfunction in a mouse model of Dravet syndrome

This study identifies circuit dysfunction in the hippocampus of a Dravet syndrome mouse model and shows that restoring parvalbumin interneuron function can rescue circuit impairments.

Diet modifies allele-specific phenotypes in Drosophila carrying epilepsy-associated PNPO variants

This study shows that PNPO variants in Drosophila interact with diet to produce diverse phenotypes, including seizures and lethality, and highlights the utility of a knock-in model for studying human PNPO deficiency.

Seizures initiate in zones of relative hyperexcitation in a zebrafish epilepsy model

The paper identifies seizure initiation zones in a zebrafish model, showing hyperexcitation in excitatory neurons precedes seizure propagation.

Adaptive mossy cell circuit plasticity after status epilepticus

This study investigates how mossy cells in the hippocampus reorganize their connectivity and function after status epilepticus, showing increased inhibitory effects despite reduced excitation.

A natural marmoset model of genetic generalized epilepsy.

The paper describes a natural marmoset model of generalized epilepsy, showing genetic predisposition and sensitivity to seizure-inducing agents.

NPRL3: Direct Effects on Human Phenotypic Variability, mTOR Signaling, Subcellular mTOR Localization, Cortical Lamination, and Seizure Susceptibility

The paper investigates NPRL3 variants' effects on mTOR signaling, cortical development, and epilepsy by using CRISPR/Cas9 knockout in cell lines and mice, showing mTOR hyperactivation and cortical dyslamination.

Optimization of closed-loop electrical stimulation enables robust cerebellar-directed seizure control

This study optimizes electrical stimulation parameters for cerebellar seizure control in a mouse model using Bayesian optimization, finding effective settings that consistently inhibit seizures.

Enhanced excitability of the hippocampal CA2 region and its contribution to seizure generation in a mouse model of temporal lobe epilepsy

This study investigates the role of hippocampal CA2 region in seizure generation in a mouse model of temporal lobe epilepsy, finding that enhanced excitability and reduced inhibition in CA2 contribute to seizure activity.

Beyond rates: Time-varying dynamics of high frequency oscillations as a biomarker of the seizure onset zone

This paper shows that time-varying dynamics of high frequency oscillations (HFOs) are better predictors of the seizure onset zone than HFO rate alone.

Robust chronic convulsive seizures, high frequency oscillations, and human seizure onset patterns in an intrahippocampal kainic acid model in mice

This paper demonstrates that a modified intrahippocampal kainic acid model in mice produces robust, frequent convulsive seizures with human-like onset patterns and high frequency oscillations.