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Genetics

Epilepsy

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Epilepsy

 Epilepsy is one of the most common neurobiological disorders that cause seizures, usually referred to as epileptic fits from overactivity of the brain. Epileptic seizures being the most common symptoms of the disease can occur across different degrees, causing few muscle twitches or a convulsion of the whole body. According to the world health organization, the condition is chronic and affects over 50 million people worldwide (WHO, 2019). Over the years, there have been significant strides in developing the cure for the condition, although its prevalence varies from one patient to another. Characterized by recurrent seizures that may lead to unconsciousness and loss of bladder functions, people living with the disorder are at risk of premature three times higher than the general population(Manford). This paper develops a broad examination of the condition to examine its causes and risk factors, pathophysiology, symptoms, treatment options, and historical development of its clinical approaches.

Epilepsy Symptoms

Epileptic seizures are the primary symptoms of the disorder, and they are categorized into two major categories; generalized seizures and focal (partial) seizures. Generalized seizures occur to the whole brain and have a higher likelihood of causing unconsciousness and convulsion of the entire body.  They are further classified into four types:

  1. Tonic Seizures- The brain over activity arising from this type of seizures mostly affect the limbs, causing rigidity and stiffness of the legs and the arms. Their impact does not usually cause unconsciousness.
  2. Atonic Seizures- This type of seizures is usually referred to as “drop attacks” or “akinetic seizure” and affects the muscles of one part of the body by a diminution of muscle tone, making them limp (ncbi.nih.gov). The degree of their impact varies from either a fragmentary diminution to a massive diminution that may lead to a fall depending on its effects on the body part. The clinical examination of atonic seizures is varied and is further examined in the pathophysiology of epilepsy, and currently, they are defined as a symptom of epileptic attacks.
  • Clonic Seizures- A clonic seizure occurs with a group of muscles forming a rhythmic movement that is repetitive, affecting the entire body and usually leading to unconsciousness (Volpe).

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  1. Myoclonic seizures- This type of generalized seizures occur as short jerking in some parts of the body (cdc.gov) as rapid twitching of muscle groups. The condition does not usually affect the patient’s state of consciousness.
  2. Absence seizures (also referred to as “petit mal seizures) are a mild type of the symptom that causes a brief and sudden loss of awareness.

Focal seizures do not affect the entire brain but a section of the brain leading to either motor disturbances, sensory disturbances, or visual disturbances. They may spread into the whole brain leading into a generalized seizure. Seizures develop as the major symptom of epilepsy since patients with the condition usually have no physical symptoms other than the seizures.

Pathophysiology of Epilepsy

In the near past, the knowledge of epilepsy has significantly increased, particularly in the classification of symptom seizures to aid further research on different types of the condition. Classifications of the epileptic syndromes adopt a framework developed by the International League against Epilepsy (ILEA) reliant of both the clinical and electroencephalographic (EEG) observations. The EEG is used to establish the cortical electrical activity of the brain in what is commonly referred to as the brain waves. Development of such classifications, however, develop from the existent knowledge of the pathophysiology and anatomy

Pathophysiology refers to physiological features causing abnormal changes in the function of a body system arising from either a pathological infection or an irregular syndrome. The pathophysiology of epilepsy has evolved across different understandings depending on the existing body of language on the disease. As one of the most popular neurological disorders, it has recently received much of studies significantly shifting its clinical approaches. The most common implication of the condition involves dysregulation of the balance between the neurotransmitters (exhibitory and inhibitory) caused by gene mutations either inherited or acquired (Asgari, 2016). Neuronal excitability develops as the common trait across all types of the epileptic syndrome, and such elements are usually associated with risk factors of the syndrome, such as brain injury, tumors, infection on the brain, and inflammation, among others.

Causes and Risk Factors

Genetic Influence- Genetics has developed as a critical perspective of understanding epilepsy as certain types of the syndrome develop out of genetic influence depending on the type of seizure experienced. Among the general population, an individual’s chance of developing epilepsy before reaching the age of 20 is 1%, but the risk increases to between 2 and 5% if one’s parent has genetic-linked epilepsy. A family history of people with the epileptic syndrome is usually considered as genetic risk, but recent studies establish the environment as a significant factor in the genetic risk of the disorder (Ba-Diop et al.).

Perinatal causes- This case involves head or brain injuries suffered during birth, such as hypoxia and hypoglycemia (Ba-Diop et al.). The risk factor bracket, however, considers prenatal injuries and early phases of childhood before full maturity of the skull as factors that may affect the brain activity and lead to seizures in later ages.

Neurological infections- Infectious diseases that happen to affect the brain can lead to seizures, and eventual epilepsy includes parasitic infections such as malaria, toxocariasis, and cysticercosis (Ba-Diop et al.). The most common neurological disease however neurocysticercosis

Head Trauma- Head traumas can occur through accidents and injuries, leading to severe brain damages and lead to epilepsy.

Brain Conditions- Brain conditions that are infectious such as tumors and stroke, may cause terminal damage of the brain, leading to epilepsy.

Development Disorders- These refer to conditions that may occur in the growth and development of an individual through childhood. Neurofibromatosis and autism are common disorders that may lead to epilepsy.

Diagnosis

Seizures are the only established symptoms for epilepsy, but having a seizure doesn’t necessarily mean an individual has epilepsy. Some people may develop seizures in their life without necessarily being epileptic may be emerging from other medical conditions such as migraines, diabetes, etc. For an individual to be diagnosed with epilepsy, the seizures have to be recurrent and have at least two within 24 hours. Such a short period of recurrence must also establish that nothing else suggests the seizures were a one-off event. While this is the most basic information for a physician to consider in the diagnosis, more studies are establishing further considerations within a patient’s medical history, family medical conditions, and the environmental conditions. Features such as high temperatures have developed as causes for recurrent seizures in the past year, and thus, medical physicians must eliminate all possibilities before epileptic diagnosis.

Before the diagnosis of the condition, doctors must establish the kind of seizures an individual underwent, and thus a third-party is crucial to provide an account of the event. There are three current approaches in the testing of the condition; neurological examination, use of the electroencephalogram, and magnetic resonance imaging (MRI) depending on the prevalence of the seizures in an individual.

Throughout medical history, epilepsy has primarily been diagnosed based on the description of the symptoms and the clinical features established. In most cases, patients fail to develop a recollection of the events, and thus an eye witness is used to give an account of the seizure. It is, however, highly considered that the human recollection of the account is vague or unreliable in clinical practice hence the need for more tests in the diagnosis process. This mainly involves cases of children whereby the parent information may be conflicting due to the panic and the general selectivity of the human brain (Krishnamoorthy). Care providers of the syndrome must, therefore, employ more scientific examinations of the problem using the tests provided by researchers on the condition.

The Electroencephalogram (EEG)

Upon suspecting epilepsy, the EEG is the most convenient form of laboratory investigation, either as a routine check, intracranial monitoring, or a prolonged assessment of the patient’s brain activity. Routine EEG involves making a snapshot of the brain activity while the prolonged assessment develops a long term monitoring of brain activity and sensitivity (Krishnamoorthy et al.). The relevance of the approach not only does establish the existence of abnormal seizures but also the type of the seizures and, if partial, the regions of the brain most affected by the condition. In the modern management and care of epilepsy, the EEG has developed as a helpful tool to give a continuous assessment of the patients and the impact of the condition on their brain activity. It also helps in developing an understanding of triggers leading to seizures and therefore establishing management approaches for the disease.

Historical Approaches to Epilepsy

Epilepsy has, over the years, developed as a complex condition and seizures, and the condition itself has been documented since the earliest civilization of humanity. For many years, people suffering from the disease were usually referred to as “possessed,” and the term seizure developed from the notion that such people were “seized” by the gods (Scharfman). Historical accounts of Epilepsy can trace back to as early as 2000 BC, as found in various ancient texts and particularly in the ancient Greek Hippocratic medical texts collection (Magiorkinis et al.). Over the years and advancements in medicine and science, ancient scholars began an examination of the condition, and by the 19th century, first strides developed on the disease.

In the 1800s, physicians began evaluations of the autopsy from a patient with epilepsy such as Bouchet, Cazauvieilh (1825), and Sommer. Medicine during the time focused on topographic localization of the epileptic seizures and pathophysiological delineation of the condition (Margiokinis et al.). The development of the electroencephalogram in the 1900s advanced the field of epileptology with research-based approaches being published for application in medical practices. Over that period, integration of ideas and research has been crucial to modern advancements, particularly since the beginning of the 20th century.

In the 1920s, Lennox and Cobb examined the effects of elements such as starvation, cerebral oxygen alterations, and ketogenic diets on the seizure occurrence in a series of monographs between 1922 and 1928. Their research examination portrayed negative results, but more scholars examined the subject further in establishing classifications and neurosurgical management of the condition. Henri Pascal Gastaut became influential in the development of Epilepsy management as he advanced the application of EEG through the discovery of photic stimulation to activate seizures. He established a research hospital institute for neurobiology and discovered two types of neural syndromes, namely, Lennox-Gastaut syndrome (an encephalopathy condition affecting children) and Gastaut syndrome (epilepsy developing from photosensitivity) (Margiokinis et al.).

Over the years, approaches to epilepsy treatment and management have evolved across the existent ideas in those periods. These include the Vagus Nerve stimulation approach, which involved implantation of signal generators on the chest to send signals to the nerve, used for patients experiencing adverse effects of the antiepileptic drugs. Antiepileptic drugs have evolved across the history with vigabatrin use in the 1980s, oxcarbazepine in 1990, levetiracetam in 2000, rufinamide in 2004, among others (Margiokinis et al.). Therapies have also been part of the historical development of the disease as alternative treatments such as reflexology, aromatherapy, herbal medicine, and other holistic therapies, etc. With the legalization of medical marijuana, Mathern et al. (2014) established the cannabidiol application in the treatment of epilepsy.

International League against Epilepsy: Advances and Medical Management

The past two decades have witnessed strategic changes in the general approaches of epilepsy since the foundation of ILAE in 1997. Currently, over 65 million people across the world are affected by the syndrome (Moshe et al., 2015), and the medical management of the disease develops as a long term treatment plan yet the only most effective approach. ILAE has succeeded in developing a universal terminology and definition of languages associated with the condition while reestablishing the diagnostic procedure of the disease. The diagnosis must establish an individual having two seizures that are unprovoked and not out of reflexes occurring in 24 hours; one seizure which is unprovoked and a 60% and above the probability of another happening in the next ten years after two successive and unprovoked seizures and diagnosis of an epilepsy syndrome.

In 2010, ILAE established the current classifications of epilepsy based on the type of seizures, either focal or generalized seizures. The proposal removed the partial terminology since such seizures have been established in some instances to have higher impacts than the generalized seizures. The global campaigns and approaches have also spearheaded efforts to develop best care practices for persons living with epilepsy, particularly in curbing social stigmatization and accessibility of the treatment options. The body has also established protocols of pharmacological therapy on the guiding principles along with the major decision points such as drug selection, treatment initiation stages, and strategies in withdrawal or drug failure cases.

Conclusion

In the analysis and examination of the epilepsy syndrome, the paper establishes huge knowledge gaps but significant strides in the clinical approach of the condition. We also develop an insight into alternative methods in the treatment of the disease, such as holistic therapies and cannabinoid research. The condition is highly prevalent mainly in developing countries, and the risk factors put everyone at risk of developing the disease. Seizures tend to vary, and the study establishes that some may not necessarily lead to unconsciousness, and many people may ignore the symptom. It is, however, critical for more public emphasis on the seriousness of the condition for those affected to receive early treatment and avoid terminal damage to brain activity.

 

 

Works Cited

Asgari, Azam. “Pathophysiology of epilepsy.” Acta Persica Pathophysiologica 1 (2018).

Ba-Diop, A., Marin, B., Druet-Cabanac, M., Ngoungou, E. B., Newton, C. R., & Preux, P. M. (2014). Epidemiology, causes, and treatment of epilepsy in sub-Saharan Africa. The Lancet Neurology13(10), 1029-1044.

Krishnamoorthy, Ennapadam S., Simon D. Shorvon, and Steven C. Schachter, eds. Epilepsy: a global approach. Cambridge University Press, 2017.

Magiorkinis, Emmanouil, et al. “Highlights in the history of epilepsy: the last 200 years.” Epilepsy research and treatment, 2014 (2014).

Manford, Mark. “Recent advances in epilepsy.” Journal of Neurology 264.8 (2017): 1811-1824.

Mathern, Gary, Astrid Nehlig, and Michael Sperling. “Cannabidiol and medical marijuana for the treatment of epilepsy.” Epilepsia 55.6 (2014): 781-782.

Moshé, Solomon L., et al. “Epilepsy: new advances.” The Lancet 385.9971 (2015): 884-898.

Scharfman, Helen E. “The neurobiology of epilepsy.” Current neurology and neuroscience report 7.4 (2007): 348-354.

Volpe, Joseph J. “Neurological examination: normal and abnormal features.” Volpe’s Neurology of the Newborn. Elsevier, 2018. 191-221.

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