Single Genetic Disorders: The Role Of Epilepsy In Children

Epilepsy is a brain disorder in which individuals have recurrent seizures. Seizures can occur in children and adults of any age. There are around 50 million people in the world who has the disorder. Individuals in developing countries are at a higher risk for developing the disorder. Seizures occur due to hyper-excitability and hyper-synchronization of neurons. Action potential transmits messages and it leads to depolarization. When neurons are uncontrollably depolarizes because of hyper-excitability due to too little inhibition, it cause a seizure. Seizures can last from a few seconds to a few minutes. As spontaneously they can develop is also as fast and spontaneous they can end.

Epilepsy and Seizure Disorder: All actions and functions travel to the different parts of the brain much like electrical wiring. The “electricity” moves from one area or wired circuit through another by jumping and traveling from area to area much like electricity Due to abnormal electricity and “jumping” seizures can occur. Epilepsy is where these electoral abnormalities are reoccurring often causing many seizures. The Tonic-Clonic or Grand Mal seizures that CM has is from muscles tightening and relaxing very fast due to the abnormal jumping of electricity in the brain. P. 417

an affected gene, and a normal gene, and being a disease carrier like their parents. Scientists

They also found that those with a family history of epilepsy had a greater risk than those who did not. Those who did not have a family history only had a raised risk of two-fold after a mild injury, while those with a family history had an incredible six-fold. These findings further support the idea that seizure disorders can be caused by multiple factors and the presence of two or more of these factors drastically increases the risk of its development (Shorvon, Nelligan

Genetic disorders can also be hereditary and can be passed down from generation to generation. There are two types of genetic disorders, single gene and multigene. Single gene focuses specifically on one gene while multigene disorders affect multiple genes and there are more of them. Moreover, single gene disorders are far more numerous than generally assumed, and as a group, they are certainly not rare (Ropers, 2010). As stated by Hans-Hilger Roper, single gene disorders are more rare than many might think. The chances of being born with a certain genetic disorder could possibly range from 1 in 500 to 1 in 10 million. While these numbers for a single genetic disorder might not be significantly high, the tens of thousands diseases bundled together adds

Epilepsy is a disorder characterized by unpredicted seizures. The seizures can affect any part of the body but usually makes its way back to the brain. Epilepsy is one of the oldest documented disorders. The invention of EEG, electroencephalogram, helped advance research in neurosurgery. The EEG helped to track abnormalities of electric activity in the brain in order to diagnose and track activity for people with epilepsy. The only symptom or characteristic of this disorder is epileptic seizures. The seizures are uncontrolled electric activity that usually occurs in the brain. When the brain is effected, other developmental complications are likely to ensue. Therefore, people with epilepsy commonly experience communication difficulties as well

Imagine what it would be like to live through unpredictable seizures. At any given moment, having to fight through health problems that have no proven cure. Syndromes of this sort are fatal and can be overwhelming to one 's being. Epilepsy in this case, has effected and changed the lives of millions throughout the world.

This neurological disorder has been observed for centuries and it is understood as a set of seizures. It is recognized as a heterogenous disorder and has been categorized into different subtypes that obtain certain characteristics (London: Royal College of Physicians, 2012). It is the recurring seizures that mainly characterizes this disorder as epilepsy compared to a single seizure that only occurs once. The word epilepsy derives from the Greek word, epilepsia, meaning “to seize”(Breedlove & Watson, 2013). This disorder is also known as a seizure disorder. Seizures are commonly described as a spasmodic disruption of senses (Darby & Walsh, 2005). The seizures that take place are considered to be the result of a primary disorder or a symptom

Chronic diseases affect many individuals in the world. Usually there is no complete cure for a chronic disease. Chronic means that it is long lasting and will occur over a long period of time. There are many various chronic diseases that affect people but a major one is called epilepsy. This disease affects the brain and causes seizures. If a person has a seizure it does not necessarily mean that they have epilepsy. If they have had several seizures, then there is high chance that they do have this disease and would go through a series of tests to confirm. If someone has a seizure the proper way to deal with it is to lay them on their side, put something under their

Majority of epilepsy phenotypes result from interaction between genes and environmental factors. Only 1–2% idiopathic epilepsies seem to be monogenic; whereas most of them are believed to be polygenic (Weber YG et al., 2008). More recently copy number variation and whole exome sequencing studies on larger populations have provided modern added evidence for the role of genetics in epilepsy (Mefford HC .,2014).Whereas the role of genetic factors in idiopathic epilepsies has long been suspected, the role of these factors in cryptogenic and symptomatic epilepsies has been demonstrated in a number of other studies (Peljto AL et al., 2014). It is now thought that genetic factors account for about 40% of the etiologic causes of epilepsy (Guerrini R and Noebels J., 2014).

Take a moment and imagine a life that is lived through flickers of moments, flickers that cannot be controlled. One can somewhat comprehend situations or circumstances that have happened throughout their day, but large fragments of life just seem to vanish for no apparent reason. Moments that cannot be regained, there is no recollection of conversations that were had, or activities that were participated in. Over time medical attention is sought, and after a serious of tests that the doctors perform, FINALLY! There is a long awaited answer, something to explain the phenomenon, hopefully it’s a quick fix and a normal life can be pursued. The doctor looks up with apologetic eyes and says, “I’m afraid it’s epilepsy’.

Pediatric epilepsy, which affects approximately 1% of U.S. children1, is one of the main contributors to avoidable hospitalizations and emergency department visits.2 Poor seizure control and repeat admissions not only increase demand on health care providers, but they negatively affect long-term seizure control3 and place a significant financial4 and emotional5 burden on patients and families. Inadequate education may be responsible for many of these unnecessary admissions. In fact, one study showed that only 29% of caregivers of children with epilepsy knew the names and doses of their child’s medications.6 By improving patient education, we may be able to improve self-management and reduce health-care utilization. In other diseases, educational

Partial epilepsy ( focal epilepsy): This type of seizures begins locally. In this type the initial neuronal discharge originates from a specific limited cortical area. It can further be classified as:

Epilepsy, also known as a seizure disorder, is a chronic neurological condition that affects an estimated 2.9 million people in the United States alone – over half of the cases beginning in childhood (Carlton-Ford et al., 1995). It is characterized by recurrent, and unprovoked seizures, which are abnormal electrical activities in the brain cells, occurring more than 24 hours apart (“Genetic Testing for Epilepsy,” 2012). There are two types of seizures that are characteristic of epilepsy: generalized and partial seizures. The first type—generalized seizures—involves the entire brain from the onset of the attack and is classified into two subtypes: tonic-clonic seizures and absence seizures. During tonic-clonic seizures, the more common type

Epilepsy is a condition in which a person has two or more seizures affecting a variety of mental and physical functions. Epilepsy is one of the oldest conditions of the human race. Epilepsy Awareness is important because Epilepsy is a widely misunderstood disorder. The reason that Epilepsy has been misunderstood has been mainly due to research not being conducted until the middle of the nineteenth century. There are six main types of seizures and many treatments that can assist an epileptic patient. Many facts and myths exist about a person who has Epilepsy, which, is why it is an important disorder to understand. A person living with Epilepsy can typically have a normal life after seeking medical advice from doctors.