Epilepsy News

Rare Xq23 Microdeletion Involving the DCX and PAK3 Genes Presenting With Lissencephaly, Agenesis of the Corpus Callosum, and Intractable Epilepsy: A Case Report - X-linked lissencephaly spectrum disorder is a rare neurodevelopmental condition resulting from pathogenic variants that disrupt normal neuronal migration, with doublecortin (DCX) being one of the genes most frequently implicated. Similarly, pathogenic variants of the p21-activated kinase 3 (PAK3) gene are associated with X-linked syndromic intellectual disability, developmental delay, and epile...

Recurrent Generalized Tonic-Clonic Seizures During Emergence from Propofol Target-Controlled Infusion in a Patient Undergoing Gastrointestinal Endoscopy: A Case Report - CONCLUSION: In addition to further strengthening the evidence regarding rare neurological events associated with propofol, this case suggests that propofol administration via TCI based on the Schnider model may not completely eliminate the risk of drug-induced seizures; thus, anesthesiologists should remain vigilant. Furthermore, the sequential administration of midazolam and diazepam may repre...

Progressive myoclonic epilepsy in two brothers: genetic testing in the younger brother and pathological examination in the elder brother - We report progressive myoclonic epilepsy in two brothers. The younger brother was diagnosed with progressive myoclonic epilepsy type 1 (EPM1) by genetic testing, and the elder brother underwent pathological examination. The parents were cousins. Both brothers presented with epileptic seizures in their early teens, followed by progressive cognitive impairment and cerebellar ataxia. In later life...

Diagnostic Yield of Neuroimaging in Patients With Nonindex Seizures in the Emergency Department - CONCLUSIONS: The diagnostic yield of head CT in patients with nonindex seizures is low despite its widespread use in emergency settings. Routine neuroimaging may be unnecessary without clinical red flags such as trauma, new focal deficits, or atypical presentations. Evidence-based tools are needed to guide neuroimaging use and optimize resource utilization.

Astrocyte-Associated ABCA1/APOE Responses Accompany Hippocampal Lipid Remodeling and Ectopic Neuronal Accumulation During Epileptogenesis - Temporal lobe epilepsy (TLE) is characterized by progressive hippocampal remodeling, including reactive astrogliosis and aberrant neuronal positioning. Although lipid disturbances are implicated in epileptogenesis, how astrocyte-associated lipid responses relate to hippocampal remodeling remains poorly understood. Here, human TLE and kainic acid (KA)-treated mouse transcriptomic datasets identi...

Paroxysmal Tonic Upgaze in Pediatric Patients With Down Syndrome: A Case Report - Paroxysmal Tonic Upgaze (PTU) is a paroxysmal movement disorder characterized by episodes of sustained upward deviation of the eyes, which can be misidentified as a seizure. There has been no definite association made between PTU and Down syndrome although Down syndrome has been associated with various other ocular and neurologic conditions. This case report describes three patients with Down s...

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.