Is Epilepsy Genetic? How Genetics Play a Part in Many Types of Epilepsy

With so many diseases these days being found to be genetic, it comes as no surprise that this question comes up when it comes to epilepsy. What is epilepsy? Are there many types of it? What does it all mean? And, last but not least, is it genetic?

Epilepsy is defined as a disorder of the central nervous system. It is marked by irregular brain activity that leads to seizures or moments of irregular behavior. This may sometimes even lead to loss of consciousness. The disease affects males and females as well as all ethnic backgrounds and age groups equally.

Generally speaking, a head injury that is a certain cause of seizure, does not always lead to epilepsy. Furthermore, having a seizure does not immediately mean that one has epilepsy. The clear guidelines for a diagnosis are that a person has two unprovoked seizures in order to be diagnosed with the disorder.

There are several different kinds of seizures and they differ based on their onset, such as febrile seizures, idiopathic epilepsy, myoclonic seizures and so on. The two general categories of the disorder are that it be marked with either focal or generalized seizures.

Focal seizures, as their name implies, are those that are marked by irregular brain activity in just one area of the brain. There are two categories of focal seizures, depending on their symptoms. Focal seizures that are not followed by loss of consciousness are one category. Generally speaking, these types of seizures are milder in their symptoms as they are accompanied by an impaired ability to perceive one’s immediate environment. For example, someone who has had a focal seizure and did not lose consciousness may have lingering effects such as impaired muscle activity or the ability to smell or taste things the same way they did before the seizure.

The other category of focal seizures is for those that are accompanied by impaired awareness. As their name implies, these seizures are marked by a temporary pause of functions, or their awareness is impaired. During these seizures, affected individuals may simply stop all activity and stare into space without any responses to outside stimuli. These were originally called complex partial seizures.

Individuals who think they may have a focal seizure should be very careful as their symptoms are easily mistaken for other neurological disorders. This is why it is incredibly important that neurologists are consulted in case of a speculation or uncertainty.

focal seizure should be very careful

The other category of seizures, generalized seizures, typically involves more than just one area of the brain. A total of six different generalized seizure categories have been delineated based on their symptoms. Tonic-clonic seizures, which are also known as the most severe type of generalized epileptic seizure, can lead to a sudden loss of consciousness, body stiffening and shaking as well as tongue biting and loss of bladder control. Furthermore, clonic seizures typically affect the neck, face,and arms, and they are marked by muscle movements that are repetitive or rhythmic. Myoclonic seizures are sudden jerks and twitches of arms and legs. There are also tonic and atonic seizures. The former is marked by muscle stiffness in the back, arms and legs, and these types of seizures may cause an individual to fall. The latter, atonic seizures, are marked by a complete loss of muscle control that can also lead to a fall. Last, but not least, the category of absence seizures often affects children and are marked by staring into space along with mild body movements such as blinking and they may cause a short loss of consciousness. These seizures were once called petit mal seizures.

Epilepsy is not always easy to treat. This is particularly apparent due to the fact that almost half of the individuals who have the disorder had no previous symptoms. Epilepsy is thought to be spontaneous within that population. Among the individuals for whom environment played a big part, the triggers that may have led to epilepsy include things such as head trauma, prenatal injury, infectious disease, developmental disorders,and brain conditions. There is also the genetic factor, which brings us to the original purpose of the post, namely the genetic aspect of epilepsy. Researchers were able to determine that certain types of epilepsies are, indeed, caused by genetics. The genetics is behind the type of seizure that is experienced as well as the brain area that is affected. While some genes were directly linked to epilepsy, the tricky part is that for the most part, epilepsy itself has not been linked to a genetic background yet. Rather, it is the symptoms that lead to epilepsy that have been associated with gene mutations. Furthermore, some individuals harbor genes that make them more prone to have epilepsy due to certain environmental triggers.

Overall, there are several risk factor categories that may make individuals more or less likely to be diagnosed with epilepsy. These include age (young children are at much higher risk), family history (some epilepsies are genetic and perhaps also inherited), previous injuries to the head, dementia as well as stroke and other vascular disease. Brain infections also play a big part as well as seizures that were experienced in childhood.

For the purposes of this post, it is sufficient to know that there are several circumstances that may lead to epilepsy, one of which is genetic. The specific genetic mutations might be a bit too much. However, given that there is a genetic backdrop to epilepsy, it would not be such a waste of time to get some genetic analysis tests done in order to be fairly certain about any potential risks. This may make a world of a difference in terms of treatment, which is so much better if one knows what to expect. Overall, however, it may not come as a huge surprise to you that epilepsy is genetic, given recent scientific advancements that enabled us to analyze several different diseases. This may be especially practical for a disease whose onset can be early childhood, as early detection can lead to much more effective and successful treatments.

Laura Day
 

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