Epilepsy News

Genetic spectrum and risk factor analysis for drug-resistant of early-onset epilepsy - CONCLUSIONS: Genetic etiology underlies most early-onset epilepsy cases. Abnormal muscle tone, epileptiform discharges on EEG, and definitive genetic diagnosis are risk factors for DRE, guiding early intervention.

Microcephaly, seizures and developmental delay caused by two novel mutations in the PNKP gene: a case report - CONCLUSIONS: This is the third report of MCSZ in a non-consanguineous Chinese mainland family. Our results offer additional evidence for clinical variability associated with disorders stemming from mutations in the PNKP gene, which complicates disease diagnosis. This underscores the significance of genetic testing to identify the underlying causes of these conditions. Furthermore, these finding...

Autoimmune Epilepsy Temporally Associated With Lyme Disease: A Report of Two Cases - The relationship between Lyme-associated illness and immune-mediated seizure disorders remains incompletely characterized. Infection-triggered neurologic immune syndromes are well described in some settings, but evidence linking Borrelia burgdorferi to autoimmune epilepsy remains limited and is based primarily on isolated reports. We describe two previously healthy patients, a 25-year-old male ...

The Role of Loss-of-Function KCNH2 Variants in Cardiac Arrhythmias, Seizures and the Risk of Sudden Unexpected Death in Epilepsy - Sudden Unexpected Death in Epilepsy (SUDEP) is the leading cause of mortality in patients in epilepsy, yet its underlying mechanisms are poorly understood. Emerging evidence suggests a significant role for genetic factors that influence cardiac function in SUDEP risk, particularly loss-of-function variants in KCNH2, which encodes the K(v)11.1 potassium channel. K(v)11.1 channels are expressed i...

Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathy - KCNT1-related epileptic encephalopathy, including epilepsy of infancy with migrating focal seizures, is a severe neurodevelopmental disorder associated with refractory seizures, profound neurologic impairment and premature death. It is caused by de novo genetic variants in KCNT1 that alter the function of Slack, an evolutionarily conserved sodium-gated potassium channel that modulates neuronal ...

ILAE-YES global webinar series: Integrating clinical and basic science in epilepsy research - Bridging clinical and basic research is increasingly recognized as a priority in the epilepsy field, yet opportunities for integration remain limited by the time, space, and financial constraints of scientific meetings. To address this gap, the Research Task Force of the Young Epilepsy Section of the International League Against Epilepsy (ILAE-YES) organized a free global webinar series designe...

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.