Myoclonus

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…

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…

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…

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…

Epilepsy is a neurological disorder that causes seizures, and it affects approximately 1.5% of the population (CDC). The roots of this disorder can be traced back to almost 2,000 B.C, beginning with texts from the Assyrian and the Babylonian empires (Highlights). Written in approximately 400 BC, “On the Sacred Disease” was a work by the Hippocratic Corpus in which doubt was cast on epilepsy as a supernatural or divine disorder, and epilepsy was first remarked as a natural and earthly disorder…

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…

In the United States alone, one in twenty-six people will be diagnosed with epilepsy in their lifetime. This means that around 150,000 people find out each year they are afflicted with this disorder. Epilepsy is a neurological disorder caused by malfunctioning nerve cells within the brain and nervous system. Juvenile myoclonic epilepsy (JME) is a variation of this disorder, appearing mainly in children ages 12 to 18. This disorder is caused when the ion channels in the nerves cells that regulate…

Epilepsy is a chronic disorder of the nervous system. Some of the symptoms of epilepsy are periodic or reoccurring seizures which are triggered by sudden episodes of abnormal electrical activity in the brain. Approximately 30% of the 200,000 new cases reported every year begin in childhood particularly around the time of adolescence (Marshall). Another period of relatively high incidences is in people over 65 years old (Marshall). During a seizure many nerve cells with a specific region of the…

Epilepsy Have you ever seen a bunch of flashing lights and thought that they looked spectacular? Some might be able to look at it with admiration. Some may look away because of how they might react to seeing it. It’s possible that you may faint, pass out, or have a seizure. This may happen to people, and those people probably have epilepsy. Next, epilepsy got its name because of the Greek words “epi - upon” and “lambamein - take hold of” to make the word “epilambanein” which means to hold…

Epilepsy is a condition in which many effects can be felt throughout the body, mainly in the central nervous system. In epilepsy there are different types of seizures. During a grand mal seizure the body and limbs go through many involuntary contractions and extensions. Some symptoms for a grand mal seizure include severe headache, fatigue, and body aches. In petit mal seizures, the body is somewhat absent as to what is happening and may include random blinking or face twitches. In myoclonic…