Epilepsy News

Integrating rare and common variation in epilepsy genetics: from genetic architecture to penetrance and clinical expressivity - Epilepsy genetics has often been interpreted through a useful but simplified dichotomous framework in which severe epilepsies, particularly developmental and epileptic encephalopathies, are attributed mainly to rare, high-effect variants, whereas more common epilepsies are viewed as arising largely from the cumulative effects of common, small-effect variation. Although this framework has been i...

Non-convulsive Status Epilepticus in L-2-Hydroxyglutaric Aciduria With a Novel L2HGDH Variant: A Case Report - L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive neurometabolic disorder caused by variants in the L2HGDH gene, typically presenting with developmental delay, cognitive impairment, seizures, movement disorders, and progressive ataxia. We report the case of a 29-year-old man with childhood-onset epilepsy and neurodevelopmental impairment who presented with recurrent episodes of...

Modelling risk factors for depressive symptoms in seizure disorders - CONCLUSION: Exploratory factor analysis elucidates the intricate relationships between variables that impact depressive symptoms in individuals with seizure disorders. It highlights how clusters of variables emerge, providing insight into how depressive symptoms develop in this population. These findings offer new potential avenues for the management and treatment of depression in people experi...

High-intensity interval training attenuates neuroinflammation and seizure activity via miR-146a/NF-kappaB signaling in chronic mesial temporal lobe epilepsy - CONCLUSION: Our results indicate that HIIT could serve as a potent anti-inflammatory and neuroprotective tool in chronic MTLE through regulating the miR-146a/NF-κB/pNMDA pathway, highlighting that regular chronic exercise training could be a complementary therapeutic option for drug-resistant epilepsy.

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia - Focal cortical dysplasias (FCDs) are malformations of cortical development associated with drug-resistant focal epilepsy. We analyzed surgical tissue from 25 consecutive cases recruited from adult and pediatric epilepsy surgery programs. We performed high-depth sequencing of lesional tissue, validated somatic variants using droplet digital PCR, and investigated genotype-phenotype correlations. ...

Hemorrhagic Cholecystitis in an Elderly Patient With Fall Syndrome: A Case Report - Hemorrhagic cholecystitis is a rare, potentially fatal complication of acute cholecystitis that develops with or without gallstones. It tends to be diagnosed late because its clinical presentation overlaps with that of other acute abdominal conditions, and suspicion is often low, as it is first a ruling-out diagnosis due to its low incidence. We present the case of an 81-year-old man with epile...

Brain signal irregularity may provide clues to understanding epileptic process - Researchers propose a new method to differentiate signals from the epileptic focus from those recorded in other parts of the brain without the presence of an epileptic seizure. This technique may help detect epilepsy-induced features from these signals much quicker than conventional analysis techniques.

Breakthrough tech enables seizure localization in minutes - New research introduces a novel network analysis technology that uses minimally invasive resting state electrophysiological recordings to localize seizure onset brain regions and predict seizure outcomes in just 10 minutes.

Antidepressant use during pregnancy not linked to epilepsy in children - A new study suggests that antidepressant use by mothers during the first trimester of pregnancy does not increase the chances of epilepsy and seizures in babies.