This month’s research news features two studies advancing Dravet syndrome research, both utilizing mouse models mimicking the disorder. One study, featuring the work of former CURE Grantee Dr. Lori Isom, tested a new type of drug and found that it decreased the frequency of Sudden Unexplained Death in Epilepsy (SUDEP) in these mice.
In other news, a recent study has increased our understanding of the unique way epilepsy can affect women, showing that women who have seizures that increase in frequency during their menstrual cycle are also more likely to have drug-resistant epilepsy.
Finally, research has helped pinpoint individuals with epilepsy who may be at risk for obstructive sleep apnea, a finding that may help physicians identify who is most at risk and who would likely benefit from treatment.
Summaries of these research discoveries and more are below.
Dravet Syndrome (Featuring the work of former CURE Grantee, Dr. Lori Isom)
A new treatment curbs deadly seizures in a mouse model of Dravet syndrome, a severe form of epilepsy, according to a new study. This new drug counteracts the effects of mutations in a gene known as SCN1A, which cause Dravet syndrome. In this study, the drug significantly decreased the overall frequency of SUDEP, lowering the likelihood of a fatal seizure. A clinical trial is evaluating the drug’s safety in children with the syndrome.
A study has utilized a gene therapy technique to reduce seizures and improve behaviors in a mouse model of Dravet syndrome. Researchers used the technique to activate the SCN1A gene, a gene with decreased activity in individuals with Dravet syndrome. The authors note that although more work must be done before the technique can be tested in people, the study supports a potential new approach to treating this cause of epilepsy.
Researchers have identified a critical new step in how brain cells function in people with one of the most common forms of epilepsy. Using mice, researchers found certain changes in gene activity and regulation in an area of the brain important in temporal lobe epilepsy. The researchers note that the study could eventually lead to targeted treatments that prevent a person from developing epilepsy.
Epilepsy and Fetal Alcohol Spectrum Disorder
A study has found a much higher prevalence of epilepsy or history of seizures in individuals with fetal alcohol spectrum disorder (FASD), a disorder that refers to a range of developmental problems that result from maternal drinking during pregnancy. Although more research is needed to establish a direct cause-effect relationship between FASD and epilepsy, the study, which examined the medical histories of individuals from two FASD clinics, supports the link between maternal drinking during pregnancy and a wide array of health impacts to the child.
Drug Resistant Epilepsy and Women
More frequent seizures during the menstrual cycle in women with genetic generalized epilepsy have been linked for the first time to drug-resistant epilepsy. Women with catamenial epilepsy, a generalized epilepsy characterized by increased seizure frequency during the menstrual cycle, were nearly four times more likely to have drug-resistant epilepsy than women who experience no changes in frequency.
Epilepsy and Sleep Apnea
People with generalized epilepsy who have seizures arising from both sides of the brain simultaneously have a higher risk of obstructive sleep apnea than those who have focal epilepsy where seizures emanate from one area of the brain, according to a new study. These findings may help physicians better understand who is most at risk for obstructive sleep apnea and, therefore, who will benefit most from treatment.