This month, we share a recent study in which researchers have discovered the potential underlying mechanism of a rare genetic mutation that can cause epilepsy. We also highlight the development of a new ‘tool’ to control neuronal activity using an already-existing technique called optogenetics that harnesses the power of light to understand seizures.
In other news, we highlight a study in which researchers have discovered a previously unknown repair process in the brain that they hope can be harnessed and enhanced to treat seizure-related brain injuries.
Lastly, we report on the first clinical trial for a new dietary treatment for children and adults with severe forms of epilepsy. This study evaluated the use of K.Vita® (also known as Betashot), an oral liquid dietary supplement developed to reduce the adverse side effects caused by the ketogenic diet.
Summaries of these articles and more can be found below.
Understanding Rare Genetic Epilepsy: Researchers have discovered the potential underlying mechanism of a rare genetic mutation referred to as S1459G that can cause epilepsy. Using an artificial neuronal preparation, the team studied protein structures, called receptors, that are attached to cell surfaces and found that this particular mutation causes receptors in brain cells to behave differently, resulting in an imbalance in brain cell communication that could lead to disorders including epilepsy. The researchers are hopeful that understanding the way this mutation might lead to epilepsy will provide a springboard for developing personalized or precision medicines to target this mutation. Learn more
New Tool to Understand Seizures: Scientists have discovered a new ‘tool’ to control neuronal activity using light and genetic engineering which is based on an already-existing technique known as optogenetics. This tool is a protein called Opn7b that is turned off when blue or green light is shone on it. When Opn7b is deactivated by light, the researchers showed that it triggers seizures in animals. This is unlike typical optogenetic proteins that are turned on by light, a process that the researchers note may be more time-consuming and less reliable. The researchers hope it will be possible to use this optogenetic tool to better understand the underlying mechanisms and timeline of the development of epileptic seizures. Learn more
Brain Repair after Seizures: Researchers have discovered a previously unknown repair process in the brain that they hope can be harnessed and enhanced to treat seizure-related brain injuries. They used an advanced imaging technique known as two-photon microscopy to examine what happened in the brains of laboratory mice after severe seizures. The researchers saw that immune cells called microglia were not just removing damaged tissue after seizures but actually appeared to be healing damaged neurons. Though the researchers note that more work must be done to understand the role of microglia in seizures, they also state that this research may help provide a pathway for developing approaches to enhance this process and treat epilepsy. Learn more
Dietary Treatment for Epilepsy: The first clinical trial of a new dietary treatment, based on the ketogenic diet, for children and adults with severe forms of epilepsy has been completed. For the study, clinicians evaluated the use of K.Vita® (also known as Betashot), an oral liquid dietary supplement, developed to reduce the adverse side effects caused by the ketogenic diet. Though this was a trial that was primarily designed to test side effects of the K.Vita® treatment, researchers also found that there was a 50% reduction in seizures. The researchers state that the study provides early evidence of the effectiveness of this treatment for severe drug-resistant epilepsies. Learn more
Breath Test to Improve Epilepsy Treatment Success: Researchers have developed a new method to measure drug concentrations in the breath of epilepsy patients. They hope that this new approach will enable doctors to react more precisely when treating the disease. The advantage is that this test does not require a blood sample that would need to be sent to the laboratory; the results are available immediately. The goal is to use the results to determine whether the active substances in the drug treatment are present at the right concentrations in the body and whether they have the desired effect on the disease. Learn more