Genetics
The genetic basis of many epilepsies is increasingly understood, giving rise to the possibility of precision treatments tailored to specific genetic etiologies. Despite this, current medical therapy for most epilepsies remains imprecise, aimed primarily at empirical seizure reduction rather than targeting specific disease processes.
We report on an 8-year-old girl with severe developmental and epileptic encephalopathy due to the compound heterozygous null variants p.(Gln661*) and p.(Leu830Profs*2) in GRIN2A resulting in a knockout of the human GluN2A subunit of the N-methyl-D-aspartate receptor. Both parents had less severe GRIN2A-related phenotypes and were heterozygous carriers of the respective null variant.
The researchers further discovered that participants who had been infected with the Delta variant had an increased risk for ischaemic stroke, cognitive deficit, insomnia, anxiety disorders, and epilepsy or seizures when compared to participants who had been infected with the Alpha variant.
These findings may reflect the involvement of the cerebellum in the underlying neurobiology of interictal psychosis and could contribute to a better understanding of this disorder.
Researchers at Washington University in St. Louis have led an international team to take a close look at the mechanisms behind the function and dysfunction of these proteins, as well as their interactions with an antiepileptic drug, to develop a potential new strategy to treat epilepsy.
Managing epilepsy in the elderly remains complicated largely due to factors related to aging. In this population, management practices are increasingly shifting towards the use of newer-generation anti-seizure medications (ASMs) as they are generally associated with better tolerability and safety profiles than older ones.
A new peptide administered through a nasal spray shows promising results as an anticonvulsant and could ultimately be further developed as a treatment to prevent seizures in both epilepsy and Alzheimer’s disease (AD).
An artificial intelligence (AI) algorithm to detect subtle brain abnormalities that cause epileptic seizures has been developed. The abnormalities, known as focal cortical dysplasias (FCDs), can often be treated with surgery but are difficult to visualize on an MRI. The new algorithm is expected to give physicians greater confidence in identifying FCDs in patients with epilepsy.
"Brain injury biomarkers will one day be the standard of care to evaluate and treat patients," said Dr. Fred Korley, an associate professor of emergency medicine at the University of Michigan and the first author of the study. "Objective biomarker data can be profoundly helpful in determining prognosis for a patient, helping to gauge how severe a brain injury is, and can ultimately inform how best to counsel family members about care for their loved ones with brain injury."
