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Hyperfunction of PSD-95 leads to hyperexcitability and cognitive abnormalities in MEF2C haploinsufficiency -
Myocyte enhancer factor 2C (MEF2C) is a transcription factor critical for brain circuit development and cognitive behavior. The loss of one copy of MEF2C leads to MEF2C haploinsufficiency syndrome (MCHS), a neurodevelopmental disorder characterized by intellectual disability, epilepsy, and behavioral phenotypes associated with autism spectrum disorders. Given that numerous genes are regulated b...
Spectrally-resolved transfer entropy in resting-state SEEG reveals epileptogenic and non-epileptogenic communication in adults and children with refractory epilepsy -
Objective. To characterise directed, frequency-resolved communication between seizure onset zone (SOZ) and non-involved zone (NIZ) regions in resting-state stereo-electroencephalography (SEEG) from adults and children with drug-resistant epilepsy (DRE).Approach. We analysed retrospective SEEG from 21 adults and 18 paediatric patients who underwent focal resective surgery. Channels were grouped ...
Network reorganization of anterograde thalamic connectivity during non-periodic patterned deep brain stimulation -
Deep brain stimulation (DBS) of the anterior nucleus of the thalamus (ANT) can reduce seizures in patients with drug-resistant epilepsy. However, seizure freedom is rare, and there is no early response biomarker to predict long-term seizure suppression. To evaluate a candidate short-term biomarker of therapeutic response to DBS, we studied 18-min trials of ANT stimulation in patients with drug-...
Acute Intrapartum Seizure in a Pregnant Woman with Epilepsy Receiving Divalproex: Maternal-Fetal Consequences and Emergency Obstetric Management-A Case Report -
CONCLUSION: Careful multidisciplinary management of epilepsy during pregnancy is essential. Breakthrough seizures during labor may lead to acute fetal compromise and require emergency delivery. Close antenatal, intrapartum, and postpartum monitoring is crucial to optimize maternal and neonatal outcomes.
Cardiac repolarization abnormalities and SUDEP risk in epilepsy -
BACKGROUND: Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy-related mortality, yet its mechanisms remain complex and multifactorial. Cardiac repolarization abnormalities are proposed biomarkers, but evidence is scarce, especially in low- and middle-income countries where epilepsy is highly prevalent.
Sudden unexpected death in epilepsy: An Italian expert consensus statement on risk, mechanisms, prevention, and therapeutic strategies -
OBJECTIVE: Sudden unexpected death in epilepsy (SUDEP) is a leading cause of premature mortality in people with epilepsy, particularly in those with tonic-clonic seizures (TCSs), developmental and epileptic encephalopathies (DEEs), and drug-resistant epilepsy. Although awareness of SUDEP has increased, major uncertainties remain regarding individualized risk stratification, mechanistic interpre...
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