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    Laforin Isoform X4 Case 3

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    Case 3 Sequence 2: Laforin Isoform X4 (EPM2A) Lafora progressive myoclonus epilepsy is a brain disorder which results in frequent seizures along with a degeneration of intellectual function (“What is Lafora,” 2009). This is the worst teenage-onset progressive epilepsy. Progressive epilepsy means a condition that affects the central nervous system and grows increasingly worse over time (“Progressive Myoclonus Epilepsy”). The gene EPM2A, which provides instructions for creating the protein laforin influenced the survival of nerve cells, or neurons, in the brain (“What genes are related,” 2009). Dysfunction in this protein can cause Lafora progressive myoclonus epilepsy when it mutates and a reduction in phosphatase activity takes place. Phosphates…

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    What Is Epilepsy?

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    One genetic condition that causes epilepsy is Lafora progressive myoclonus epilepsy. This genetic condition can be caused by mutations on either the EPM2A gene or the NHLRC1 gene. The EPM2A gene contains instructions on how to create the protein laforin. Along with being active in cells throughout the body, the laforin protein helps neurons in the brain survive. The laforin protein is believed to work along with a protein called malin to regulate the amount of glycogen produced. The instructions…

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    As a vocational rehabilitation counselor I believe that Holly’s goals are very realistic and possible. She wants to first seek an appropriate job in her anticipated field of writing. She enjoys writing as a leisure activity and also has a writing background from a high school job, which could count as a transferable skill. She could work for a local newspaper, blog, magazine or even publishing company. She could start in an entry level position or as a paid intern. After saving enough money she…

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    Epilepsy: A Case Study

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    Introduction Epilepsy is a chronic disorder of the brain that affects individuals of all ages worldwide. It is one of the world’s oldest documented disorder. It is described as having multiple unprovoked seizures. Seizures are short occurrences of involuntary movement that may include a part of the body (partial) or the entire body (generalized) and are sometimes accompanied by loss of consciousness and control of bowel or bladder function. Seizures are an outcome of excessive electrical…

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    Epilepsy Research Paper

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    Throughout the world there are around 50 million people living with epilepsy, and 3 million of them live in the United States, which to society is an alarming statistic (BroadcastMed). Epilepsy is a neurological disorder where the nerve cell activity in the brain is disturbed, causing seizures. To most people a seizure is when a person’s muscles contract and they fall to the ground, their muscles spasming, making their whole body shake. In reality, studies have shown that there are many…

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    Since Epilepsy is know for seizures, it's main symptom is a seizure itself, and possibly fainting. The effects of this disorder all depends on the person, and how their body reacts to the issue. People may face, depression, no control of the movement in your own body, and being lost/clueless within yourself. If you are diagnosed with Epilepsy, medication is needed for this disorder in order to stay somewhat controlled and maintain the regulations of your body. If you don't treat yourself…

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    In the case of idiopathic or constitutional epilepsy there is no neurologic abnormality and no specific cause can be identified. Seizures usually begin between five and twenty years of age, but they may start later in life. In the case of symptomatic epilepsy we know the causes. These might vary on a wide range. The most common causes are congenital abnormalities and perinatal injuries, metabolic disorders (withdrawal from alcohol, or drugs, uremia, hypoglycemia, hyperglycemia), trauma, tumors…

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    Seizure Activity Model

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    In both clinical observation and animal models, infants have experienced seizures a period of hours after an initial asphyxia event, the effect that these seizures have in terms of neural damage however, is not known. Meldrum (1999) seizures as the sudden simultaneous firing of cells in a particular part of the brain. This is shown as high amplitude/high frequency EEG waves; and could cause physical convulsions of the body. The effect to the brain is a lot more wide spread with consequences that…

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    Awareness is used to tell people about a certain cause, teach how to prevent the cause from happening, and help people fund towards the cause. There are many things that are not caused diseases that have awareness months’ such as teen nonviolence dating. I believe that Epilepsy should have its own awareness month because how many people really know what it is, how it affects people, the way it is treated or how much it costs. Epilepsy is when something in your brain is triggered and when that…

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    Essay On Epilepsy

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    Epilepsy is a chronic disorder with reoccurrence of unprovoked seizures that happens because of the electrical events that occur in the brain. An epileptic seiszure is a central nervous system disorder that affects neuron activity by causing an excessive amount of activity in the brain. This can be attributed to a large amount of action potentials that don’t allow for any relief, which can cause damage to the cell. Antiepileptic drug therapy for epilepsy even though proven to give relief to…

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