June 26, 2015
By Medical Discovery News
Humans have been recording and diagnosing epilepsy for at least 4,000 years, but it only began to be understood a few hundred years ago. While doctors noticed some epileptic patients had brain lesions, others did not have any that were visible – until now. Using a combination of gene expression analysis, mathematical modeling, and microscopy, scientists have found microlesions in the brains of epilepsy patients, which may explain the cause of seizures in some people.
Epilepsy is characterized by unpredictable seizures that result from groups of neurons firing abnormally. Some people experience symptoms prior to a seizure that allows them to prepare. In some cases, seizures can include jerking, uncontrolled movements, and loss of consciousness. In others, the seizure may only cause confusion, muscle spasms, or a staring spell. Epilepsy patients experience repeated seizure episodes.
Epilepsy is a relatively common brain disorder affecting about 1 percent of people – 65 million worldwide, 3 million in the United States. Some causes of epilepsy are strokes, brain tumors or infections, traumatic brain injuries, lack of oxygen to the brain, genetic disorders such as Down syndrome, and neurological diseases such as Alzheimer’s. However, for two-thirds of people with epilepsy, there is no known cause. Not all seizures are related to epilepsy, as they can also be caused by low blood sugar, high fever, and withdrawal from drugs and alcohol.
Epilepsy can be treated using anti-seizure medications that control the spread of seizure in the brain, but about one-third of epileptic patients don’t respond to current medications. Some cases are treated by surgically removing or killing cells in the region of the brain that are responsible for the aberrant electrical signaling. If neither of those are options, a device can be implanted that stimulates the vagus nerve, which is part the autonomic nervous system that controls involuntary bodily functions such as heart rate and digestion.
In some people with epilepsy, the cause was traced to a visible abnormality in the brain. Now, scientists have identified millimeter-sized microlesions that could explain why a seemingly normal brain suffers seizures. Scientists compared the genes expressed in the microlesions of 15 people with epilepsy. Using mathematical modeling called cluster analysis, they discovered 11 groups of genes that were either expressed too much or too little in brain tissues experiencing the high electrical activity that causes seizures.
Based upon what these genes encoded, they predicted certain brain cells would be reduced and immune response or inflammation would increase in the microlesions. That’s exactly what they found when they stained those sections of the brain and examined them under a microscope. Brain cells lost communication with each other, limiting the brain’s communication network. This probably leads to the abnormal electrical signals that trigger seizures.
This conclusion still needs to be confirmed, but in the future it may guide the development of new treatments for epilepsy.
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Pamela K. Bond 