This month we highlight new research advancing our knowledge of epilepsy genetics, epilepsy risk factors, new treatment targets, and more. First, we share news of a study investigating a genetic cause of epileptic encephalopathy and identifying a possible target for the development of treatments.
Next, we feature research investigating risk factors of epilepsy and of Sudden Unexpected Death in Epilepsy (SUDEP). The first report identifies hypertension as being linked to a 2.44-times higher risk of epilepsy. The second set of studies examines how seizure type affects heart rate variability as a measure of cardiac dysfunction, drawing a possible link between the two and SUDEP.
We further highlight two studies using rodent models of epilepsy that identify possible treatment targets for temporal lobe epilepsy and newborns with treatment-resistant epilepsy. Finally, we include a report of a wristwatch monitoring device, still in development, that may have the potential to forecast seizures 30 minutes before their occurrence.
Summaries of these research discoveries are below.
Genetics of Epileptic Encephalopathy: Researchers studied mice with a mutation in a gene called KCNQ2, which is also mutated in some patients with a severe form of epilepsy called an epileptic encephalopathy. The mice with the mutated KCNQ2 gene exhibited seizures, developmental, and behavioral symptoms but also neural degeneration and inflammation in the brain. The finding of neurodegeneration and inflammation may be an important part of the disease’s pathology and a potential target for treatment. Learn more
Hypertension and Risk of Epilepsy: Hypertension may double an adult’s risk of developing epilepsy, according to a new study. In a study of 2,986 U.S. adults with an average age of 58 years, 55 new cases of epilepsy were identified during an average follow-up of 19 years. Hypertension, defined as presence of elevated blood pressure or use of antihypertensive medications, was linked to a nearly 2-fold higher risk of epilepsy. Furthermore, after excluding participants with normal blood pressure on antihypertensive medications, hypertension was linked to a 2.44-times higher risk of epilepsy. Learn more
Cardiac Dysfunction, Seizure Type and SUDEP: A research team studying the link between heart rate variability (HRV) as a measure of cardiac dysfunction and seizure type has recently published two studies increasing our knowledge of the connection between the two. The authors note that patients with more HRV changes may have a greater risk of SUDEP. In the first study, the researchers studied HRV in patients with refractory epilepsy and found cardiac dysfunction was greatest during the period following generalized convulsive seizures. In the second study, the researchers compared different types of seizures and found that focal to bilateral tonic-clonic seizures (FBTCS versus non-FBTCS) had a greater negative effect on cardiac function. The authors note that HRV could potentially be used as a SUDEP risk biomarker in select patient populations with worse autonomic cardiac function following seizures. Learn more
Neuroregenerative Gene Therapy for Temporal Lobe Epilepsy: A research team has recently completed a study using neuroregenerative gene therapy (a process that regrows or repairs brain cells) to treat temporal lobe epilepsy (TLE) in rats. The team utilized research tools called viral vectors, which can deliver genetic material into cells, to initiate the conversion of a type of brain support cell into a type of cell that can inhibit excitatory activity in the brain. By doing so, the team was able to reduce seizures in the rats, raising new hope for individuals with refractory TLE. Learn more
Improving Treatment for Newborns with Drug-Resistant Seizures: Researchers have identified an important molecular mechanism that offers promise for understanding and developing novel treatments for drug-resistant seizures in newborns. This molecular mechanism involves the KCC2 ion transporter, which is important in preventing too much neuronal activity in the brain that can lead to seizures. The researchers showed that increasing the activity of the KCC2 ion transporter with a KCC-selective activator reduced seizures in mice. According to the study authors, their findings are the first to validate the strategy of using KCC2 as a potential drug target for treatment-resistant seizures. Learn more
Seizure Forecasting with Wrist-Worn Devices: A new study tested a special wristwatch monitoring device and found it could detect biological patterns in people that may be able to provide 30 minutes of warning before a seizure occurs. Information collected from the wearable device included electrical characteristics of the skin, body temperature, blood flow, heart rate and accelerometry data that tracks movement. Data were analyzed using artificial intelligence with a deep learning neural network approach. Though the researchers noted that the data are preliminary and more data are being added, they hope that this research paves the way towards integrating seizure forecasting into future clinical practice. Learn more