A Novel Way To Analyze The Genetic Variants For Epilepsy
Seizures are the?third most common neurological disorder?after stroke and Alzheimer's disease, affecting about 50 million people worldwide. Seizures are temporary disruptions of brain functions.
It occurs due to abnormal, excessive neuronal activity when normal brain functions are hijacked.
If seizures are repetitive in an individual, it is a chronic condition called 'epilepsy'. The highest incidence of epilepsy is seen in young children and the elderly.
Seizures: Understanding their types
Not all seizures are the same. Some may be accompanied by loss of consciousness, while others may not.
It is often difficult to distinguish between episodic loss of consciousness and various types of seizures.
Though they can be of several types, broadly they are classified into two:
The other less-known types are:
The many causes of seizures
The exact cause of seizures is unknown. Our brain has got restraint mechanisms in place to keep the electrical activity in check.
Sometimes, these are overridden by largely unknown means, leading to seizures.
Several factors, may, however, contribute to this:
While we're not exactly sure what causes seizures, it has been considered to be the price we pay for years of normal cortical function.
What causes epilepsy in children?
The following has been attributed to causing epilepsy in children:
Seizures: The first clues
The signs and symptoms differ based on the location and extent of the brain region affected.
However, most seizures begin with a 'Jacksonian march', i.e. starts with localized symptoms, leading to convulsions and twitching followed by the loss of consciousness.
Other seizure types may manifest as individuals staring blankly for a few seconds without realization of what's happening.
The warning signs:
A single seizure does not indicate epilepsy. It takes at least a couple of unprovoked seizures to be diagnosed as epilepsy.
Occurrence: Possibility of a sudden onset
Anybody can develop epilepsy.?
Factors like age, health condition, and race might influence the likelihood of developing epilepsy.
According to the statistics, about?1 in 50?individuals develop epilepsy in their lifetime.
New cases of epilepsy are noted among children, particularly during those below one-year-old, and it gradually goes down until age 10.
Among older individuals, particularly those older than 55, the rate of occurrence starts to increase as people develop brain tumors, stroke, or Alzheimer’s disease.
What having a seizure feels like
"It started, as it always does, with the rising feeling – the feeling of nightmares –crawling all up my body and paralyzing me so that I couldn’t call for help. Then the dread closed in all around me and everything went fuzzy and unreal. The seizure’s never the worst bit, though. The worst bit’s when I come to and I see the faces of the people I love" - Helen Stephen
During seizures, your brain undergoes bursts of electrical activity more than usual.
This can cause several symptoms depending on the type of seizure and the part of the brain which is involved.
Normal brain activities can also occur during a seizure.
You might be able to move, feel, see, and do many things.
While seizures have a start, middle, and end phase, it might be difficult to categorize them sometimes.
When you experience more than one seizure, you might notice that it could be stereotypic, episodic, and can also be unpredictable.
Common symptoms of a seizure include changes in your thoughts, the way you speak, vision problems, muscle changes, drooling, losing bladder control, and trouble breathing.
Are all seizures epilepsy?
Not all seizures indicate epilepsy.
Normal?EEG?readings and lack of response to epileptic medicines can help distinguish between epilepsy and other seizure disorders.
Genetics: What DNA Says about Epilepsy
Epilepsies are highly genetic disorders. About 50% of the case occurrences have a genetic basis.
Genetic tests can yield mechanistic insights into treatment choices and prognosis.
Research shows a complex and surprising interaction between genes influencing seizure onset.
At present, more than 70 genes have been linked to epileptic phenotype.
However, most cases of seizures cannot be explained even with the recent surge in the identification of epilepsy genes.
The diagnosis of epilepsy
Upon reviewing your symptoms and medical history, your physician might order several tests to diagnose epilepsy.
The diagnostic test for epilepsy include:
Treatment: What are the different options?
There are several treatment strategies
About 80% of patients respond to medication.
The remaining 20%, however, remain refractory.
Surgery is the treatment of choice for such patients.
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Some of the anti-epileptic drugs include Lacosamide, Rufinamide, Tiagabine, Diazepam, Phenytoin, Divalproex, Carbamazepine, Phenobarbital, and Valproic acid among many others.
Being in sync: Epilepsy and other conditions
Mental illness
Epilepsy is not a mental illness and the majority of patients do not have psychological issues.
However, uncontrolled epilepsy can affect the individual psychologically.
More commonly, epilepsies can cause personality changes in an individual.
A switch in their emotional and behavioral state might occur.
Memory loss is also a common cause of worry in epileptic individuals.
Before the onset of a seizure, changes in mood like irritability or depression are not unusual.
Reduced libido, depression, psychosis, and paranoia can also occur as a complication.
They are, however, largely preventable.
Although epilepsy is not a psychiatric disorder, the dimension is vital for future research.
Anxiety
About 1 in 3 individuals develop the fear of seizures and constantly worry they might have another attack soon.
Not only does anxiety occurs as a reaction to the diagnosis, but also does exist as a symptom of epilepsy and a side effect of epilepsy drugs.
Bipolar disorder
Nigerian researchers report that epilepsy and bipolar disorder could share genetic roots.
The study concluded that there is a?genetic or environmental relationship?between epilepsy and bipolar disorder.
It has also been suggested that biochemical, structural, and functional abnormalities in the primary bipolar disorder could occur secondary to epilepsy.
Another?research ?conducted by the Bayer College of Medicine has reported that the?gene associated with bipolar disorder controls the balance between brain excitation and inhibition associated with epilepsy.
Schizophrenia
While schizophrenia is not a common complication, epileptic patients are at a 2.5 times increased risk for schizophrenia compared to the normal population.
The LGI gene (leucine-rich glioma inactivated) has been linked to partial epilepsy with auditory features, representing schizophrenia.
The big question: Is epilepsy fatal?
Repeated generalized seizures without return to full consciousness between seizures, called?status epilepticus, are a true medical emergency.
This condition requires aggressive seizure management and general medical support because 30 or more minutes of continuous convulsive seizures lead to brain injury or even death.?
Does a person remember having a seizure?
An individual having a seizure attack can remember what's happening to them during the onset if there is no loss of consciousness.
They cannot, however, react to it and move or speak until the attack ends.
To date, we do not know exactly how a seizure terminates on its own.
Lifestyle changes and epilepsy
Diet: When your food plays a role
While foods have not been shown to trigger epilepsy, people with the conditions are advised to avoid the following:
The helpful vitamins and seizures
Vitamins that reduce seizure frequency include vitamin B6 and vitamin E.
Minerals that reduce seizure frequency include manganese, taurine, dimethylglycine, and omega-3 fatty acids.
Thiamine helps improve cognitive function in epileptic patients.
Also, supplementation with folic acid, vitamin B6, biotin, vitamin D, and L-carnitine may be needed to prevent or treat deficiencies resulting from the use of anticonvulsant drugs.
Caffeine: Triggers of seizures?
A Brazilian case?study ?has reported a case of a man with partial symptomatic epilepsy who experienced an increase in seizure frequency due to his heavy coffee-drinking habit.
They also reported that once he stopped taking coffee, the frequency of his seizures decreased dramatically.
Cannabis oil and epilepsy
Cannabis-based (CBD) oil has been reported to have prevented seizures in a?patient ?who had experienced various treatment failures.
Doctors emphasize that?CBD oil isn’t a miracle cure?but that it can help eliminate or reduce epilepsy symptoms and also ease off side effects caused by other drugs.
The Texas Law permits only those with intractable epilepsy (where at least two other medications have failed to help) eligibility to be prescribed CBD oil.
Physical exercises: Is staying active the key?
While exercising helps improve overall health and well-being, researchers have also found a link between exercise and a reduction in the number of seizures in epileptic patients.
Also, lack of physical activity is associated with cardiovascular diseases, cancers, type 2 diabetes, osteoporosis, hypertension, anxiety, and depression. Thus exercise can help prevent such conditions.
Living with epilepsy
While living with epilepsy can be quite challenging, it's not impossible. Being diagnosed with the condition can be quite upsetting and make a person with epilepsy feel isolated and alone.
The medicines they take might cause side effects which might make it difficult for them to cope with work. But with proper management and support, patients can lead a relatively normal life. They may have to stay away from potential triggers of the condition though.
Being employed when epileptic
The?Equality Act 2010?protects epilepsy patients from being unfairly treated.
The act covers them during a job application, and interview process and continues to cover them once they start working too.
The act implies that employers cannot refuse a job to an individual just because they have epilepsy.
However, to ensure safety, they must refrain from applying for jobs that involve driving, working at heights, working near open fire/water, and work that involves unguarded machinery.
References
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