Genetics of Epilepsy
Epilepsy is a disorder that affects hundreds of thousands of people, but an alarming number of those affected are being misdiagnosed by doctors. Therefore, money should be spent on diagnosis for epilepsy because there is a knowledge gap in areas related to accurate diagnoses, new treatment options, the risks of sudden unexpected death in epilepsy, and how to sufficiently and sensitively convey those risks.
Epilepsy is a chronic disorder where recurrent, and unprovoked seizures occur. Many people with epilepsy have more than one type of seizure and may have other symptoms of neurological problems as well. The brain is the source of epilepsy because the events that produce the symptoms occur in the brain. According to the Epilepsy Foundation “A person is diagnosed with epilepsy if they have one or more seizures that were not caused by some known and reversible medical condition like alcohol withdrawal or extremely low blood sugar. The seizures in epilepsy may be related to a brain injury or a family tendency, but often the cause is completely unknown” (2). New cases of epilepsy occur each year in the U. S estimated at 150,000 or 48 for every 100,000 people. In total, more than 2.5 million
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Sometimes severe seizures can cause brain damage, but most seizures do not seem to have a detrimental effect on the brain. However, many injuries can be caused by seizures. According to the Epilepsy Foundation, “The overall risk of dying from epilepsy is 1.6 to 3 times higher in people with epilepsy than in the general population. People with epilepsy can also die from problems that occur during or after a seizure, such as inhaling vomit” (2). Sudden Unexpected Death in Epilepsy (SUDEP) is likely the most common disease-related cause of death in with epilepsy. It is not frequent but it is a very real problem and people need to be aware of its