Introduction
Is epilepsy genetic? This question often arises; however, it is crucial to know that various forms of this condition are associated with genetic mutations, which may be inherited from one’s parents, or occur spontaneously. Approximately, 1 million people in the United States are affected by this condition. Not only genetic factors but environmental factors are believed to contribute to the likelihood of developing epilepsy.
To delve into the specifics of genetics and epilepsy, keep on reading the blog.
Understanding the Link: Is Epilepsy Genetic?
Genetic epilepsy implies that an individual possesses one or more genes that elevate the probability of experiencing seizures. However, not everyone with these genetic mutations will necessarily develop the condition. Environmental factors are also believed to play a role in the manifestation of epilepsy.
However, in idiopathic generalized epilepsy, often called genetic generalized epilepsy, individual genes might contribute only minimally to the increased risk of seizures. When multiple genes are present, the likelihood of developing this condition becomes more prominent.
According to a study, it was identified that 26 genetic areas in human DNA were associated with epilepsy, with 16 of them being newly reported. Additionally, the research highlighted a robust association known as genetic generalized epilepsy and the most prevalent genetic variants.
Inherited Epilepsy vs. Genetic Pathogenic Variants
Is epilepsy genetic? Yes, if it is attributed to a known genetic variant, then it is classified as having a genetic cause. However, it is essential to realize that having a genetic cause does not always mean the person may inherit epilepsy. Changes in genes, referred to as genetic pathogenic variants, can occur regardless, even if either biological parent has the condition or not.
Having a sibling with epilepsy, particularly an identical twin, can also elevate the risk of developing the condition. Moreover, certain family members with the same gene mutation may experience this condition differently. Although it may now be recognized to have a genetic basis, the specific affected gene or genes may not have been identified yet.
Further explore: Neurology Clinical Trials: Advancing Therapies for Neurological Conditions
Symptoms of Epilepsy
In cases where genetic epilepsy is concerned, additional symptoms beyond the mentioned ones may be present. As this condition stems from specific brain activity, seizures can impact various brain processes. Some individuals may experience partial seizures also known as focal seizures.
Symptoms of seizures may manifest as:
- Temporary confusion
- Staring spells
- Stiff muscles
- Involuntary jerking movements of the arms and legs
- Loss of consciousness
- Psychological symptoms like fear or anxiety
Usually, most individuals with this condition continuously experience the same type of seizure, with symptoms remaining similar from one episode to another.
What are the Causes of Epilepsy?
Genes may also directly cause epilepsy, either as part of a genetic disorder or sometimes not. However, some of the major causes are mentioned below:
- It may result from a complex link between genetic predisposition and environmental factors.
- Certain genes may contribute to the development of brain malformations, which may lead to epilepsy.
- Some inherited metabolic conditions may heighten the likelihood of experiencing seizures.
- Brain injuries resulting from head trauma, such as those sustained in a car accident, can initiate epilepsy.
- Infections, including meningitis, HIV, and viral encephalitis, have the potential to cause this condition.
- Brain abnormalities, such as damage from a stroke or the presence of brain tumors, can be one cause.
- The predominant cause of epilepsy in individuals over 35 years of age is typically damage from a stroke.
However, in the case of affected genes, they may exhibit:
- Mutations in mitochondrial DNA
- Missing or mutated chromosomes
- Changes in gene activity
In certain cases, genetic reasons can be the cause of epilepsy, but the exact cause of this condition remains elusive.
Screening for Epilepsy
Genetic testing can serve as a means for screening for specific genetic mutations associated with epilepsy. Genetic testing for this condition examines genes to:
- Uncover the root cause of the condition
- Assist in selecting appropriate antiseizure medications
- Predict the trajectory of the condition
- Assess if a child is predisposed to developing this condition
Typically, physicians utilize a blood sample for genetic testing. Alternatively, less commonly employed methods include:
- Saliva samples
- Cheek swabs
- Skin biopsies
Genetic test outcomes will fall into one of the following categories:
- Positive Result: For individuals with epilepsy, a positive result indicates the presence of genetic epilepsy.
- Negative Result: A negative result suggests that no alterations were detected in the genes examined, though additional testing may be required.
- Uncertain Result: An uncertain result indicates the discovery of a genetic variant, but its significance is unclear.
Treatment
It is noteworthy to realize that one must consult a healthcare professional for the proper treatment. There are certain treatment plans that can work when it comes to managing the condition
- Anti-seizure medication serves as the primary approach for treating epilepsy and is known to reduce the frequency and intensity of epileptic episodes.
- Surgery such as removal of the specific brain area that may be causing seizures may also help.
- Doctors suggest using an implanted electrical device that stimulates the vagus nerve.
- Targeting specific rare genes shows promise for future treatment. However further research is required.
- Alternative therapies that may not be available in the market, potentially explored through Epilepsy Clinical Trials, have helped countless people when the standard treatment no longer seems to work.
Is Epilepsy Genetic? Summary
Genetic mutations are associated with an elevated risk of epilepsy. However, these alterations may be inherited from a parent, or they can spontaneously occur in a child without a direct link to heredity. Genetic reasons can be the cause of this condition, but the exact cause remains elusive. Additionally, the utilization of genetic testing aids individuals in determining the involvement of genes in their epilepsy and assessing the potential risk of passing it on to their offspring. Numerous clinical organizations like Revive Research Institute are conducting clinical trials investigating potential new therapies for epilepsy and other neurological conditions, making these novel therapies accessible to people.
