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.
SUDEP
They are hopeful their findings will apply to children with and without epilepsy who may be at risk for sudden death. Their overall goal is to identify not only genetic risk factors for SIDS and SUDC, but also other means of identifying children at risk for sudden death.
