This study suggests that abnormal electrical activity (such as IEDs) in one part of the brain can disrupt normal neural activity in distant parts of the brain and may be an indicator of where the epileptic network will spread.
SUDEP
The researchers gathered evidence suggesting that a protein in the brain called orexin, which is known to regulate breathing and heart rate, may be a central player in causing SUDEP.
In a previously published study, the investigators treated a child with early-onset epileptic encephalopathy associated with a mutation in GRIN2A with the drug memantine and found a substantial reduction in his seizure burden after treatment for a year.
Dr. Wang’s work has led to a model that represents the genetics, pathology, and EEG features of human focal cortical dysplasias.
Rare Epilepsies
Researchers have known for many years that most cases of Rett syndrome are caused by mutations in the MECP2 gene; however, the mechanisms that link these genetic changes to the syndrome’s diverse symptoms are not well understood.
The team found increased levels of certain amino acids, potentially made by gut bacteria, in the epileptic brain regions of individuals with focal epilepsies.
Genetics
Dr. Xue’s team hypothesized that not having enough STXBP1 must prevent inhibitory neuronal signaling, causing an imbalance between excitation and inhibition in the brain.
SUDEP
Having demonstrated the feasibility of a randomized trial of fluoxetine versus placebo to improve HCVR, the team plans to continue studying fluoxetine and other therapeutic targets.
Dravet Syndrome, Genetics, Rare Epilepsies, SUDEP
Results reveal mechanisms by which different epilepsy-related genes can affect heart function and SUDEP. Future research will investigate the impact of variants of a specific non-ion channel gene to see if it causes altered cardiac beating.
