A Novel Way To Analyze The Genetic Variants For Epilepsy

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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 the 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 in 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 the episodic loss of consciousness and various types of seizures. Though they can be of several types, broadly they are classified into two:

  • Focal or partial seizures
  • Generalized seizures

The other less known types are:

  • Infantile seizures
  • Psychogenic non-epileptic seizures

 

The many causes of seizures

The exact cause of seizures are unknown. Our brain has got restraint mechanisms in place to keep the electrical activity in check. Sometimes, these are overridden by largely unknown mean, leading to seizures. Several factors, may however, contribute to this:

  1. Genetics: GLUT1, SNC1A genes
  2. Brain injury: Trauma and stroke
  3. Brain infection: Human papilloma virus, measles, meningitis
  4. Drugs (including alcohol!)
  5. Consistently high fever
  6. Brain tumors
  7. Metabolic imbalance
  8. Hormonal imbalance
  9. Chronic fatigue and stress
  10. Sensory triggers: Flashing lights and rarely repetitive loud sounds

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 have been attributed to causing epilepsy in children:

  • Intracranial hemorrhage occurs in premature babies and causes a bleed inside the brain.
  • Perinatal hypoxia is the lack of oxygen to the brain
  • Low levels of glucose, sodium or calcium in the blood.
  • Infections like meningitis or encephalitis.
  • Brain damages like cerebral dysplasia or dysgenesis.
  • Genetic diseases like benign neonatal convulsions, GLUT1 deficiency or Dravet syndrome.

 

Seizures: The first clues

The signs and symptoms differs based on the location and extent of brain region affected. However, most seizures begin with a ‘Jacksonian march‘, i.e. starts with localised symptoms, leading to convulsions and twitching followed by the loss of consciousness. Other seizures types may manifest as individuals staring blankly for a few seconds without realisation of what’s happening.

The warning signs:

  1. Auras ranging from headaches to visualizing colors
  2. Feelings of detachment
  3. Unusual smells, tastes or feelings
  4. Daydreaming
  5. Jerking movements of an arm, leg or body
  6. Fuzziness
  7. Confusion
  8. Forgetfulness
  9. Numbness or tingling sensation in certain body parts
  10. Unexplained weakness or sleepiness

A single seizure does not indicate epilepsy. It takes at least a couple of unprovoked seizures to be diagnosed as epilepsy.

 

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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 tumours, stroke or Alzheimer’s disease.

 

What having seizure feels like

 

“It started, as it always does, with the rising feeling – the feeling of nightmares –crawling all up my body and paralysing 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 an end phase, it might be difficult to categorise it sometimes. When you experience more than one seizure, you might notice that they 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 controls, and trouble breathing.

 

Are all seizures epilepsy?

Not all seizures indicate epilepsy.

  • Epileptic seizures are abnormal movements or behaviors occurring due to unusual electrical brain activity and are a characteristic symptom of epilepsy.
  • Non-epileptic seizures are not accompanied by abnormal electrical activity in the brain and might be due to stress or psychological issues.
  • Provoked seizures are those that occur as a result of trauma, hypoglycemia, high fever, low blood sodium, alcohol/drug abuse.

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 on the recent surge in 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:

  • Neurological examination
  • EEG (Electroencephalogram)
  • CT (Computed tomography) scan
  • MRI (Magnetic resonance imaging)
  • Functional MRI (fMRI)
  • PET (Positron emission tomography) scan
  • SPECT (Single photon emission computed tomography)
  • Blood tests
  • Neuropsychological tests

 

Treatment: What are the different options?

There are several treatment strategies

  1. Anti-epileptic drugs
  2. Lifestyle changes (switching to ketogenic diet)
  3. Surgery: Resection and brain stimulation

About 80% patients respond to medication. The remaining 20%, however, remain refractory. Surgery is the treatment of choice for such patients. 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 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 behavioural state might occur. Memory loss is also a common cause of worry in epileptic individuals. Prior to the onset of a seizure, changes in mood like irritability or depression is 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 an other 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 the 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 is 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, is a true medical emergency. This condition requires aggressive seizure management and general medical support because 30 or more minutes of continuous convulsive seizures leads 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. Till date, we do not know exactly how a seizure terminates on its own.

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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:

  1. Refined carbohydrates (pizza, soft drinks, white bread, cakes, white rice, white pasta, chips, and bagels)
  2. Certain fruits and vegetables that fall in the medium-to-high- glycemic index (mangoes, raisins, bananas, mashed potatoes, and dates)
  3. Foods containing artificial sweeteners, preservative and MSG (Monosodium Glutamate)
  4. Ginkgo nuts

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 anti-convulsant drugs.

Caffeine: Triggers of seizures?

A Brazilian case study has reported a case of a man with partial symptomatic epilepsy 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 had 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 exercises and reduction in the number of seizures in epileptic patients. Also since lack of physical activity is associated with cardiovascular diseases, cancers, type 2 diabetes, osteoporosis, hypertension, anxiety, and depression. Thus exercises 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, interview process and continues to cover 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

  1. http://epilepsyontario.org/about-epilepsy/types-of-seizures/
  2. https://www.ncbi.nlm.nih.gov/m/pubmed/15371287/
  3. https://www.ncbi.nlm.nih.gov/m/pubmed/8441366/
  4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2768382/
  5. https://www.ncbi.nlm.nih.gov/pubmed/17397265

 

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