Epilepsy is a disorder that affects about 3 million Americans and 65 million people around in world. Research is ongoing to find the causes of epilepsy. In two-third of patients diagnosed with epilepsy, the cause is unknown. Epilepsy is a disorder that affects many people in different ways. Some cases of epilepsy are caused by genetic disorders.
Epilepsy is a disorder that affects the brain causing seizures. Seizures occur when the nerve cells in the brain release more energy than the brain can control. There are many different types of seizures. Seizures are commonly grouped under the terms generalized and partial, also referred to as focal onset seizures. Generalized seizures affect the whole brain at one time, while focal onset seizures …show more content…
Tonic seizures occur when muscles, normally in the arms and legs, suddenly stiffen. Often when a tonic seizure occurs, the person experiencing the seizure will fall to the ground. Tonic seizures normally last less than twenty seconds and most people remain conscious during them. A number of medicines can be prescribed to help control tonic seizures, including Primidone (Mysoline). Tonic seizure can be found alone, but are most commonly found combined with clonic seizure as a tonic-clonic seizure. In a tonic-clonic seizure, it begins as a tonic seizure, then transitions into a clonic seizure.(15)
Clonic seizures are characterized by repeated jerking in the arms and/or legs. The jerking will not stop when limbs are restrained or moved. Clonic seizures are more noticeable than absence or myoclonic seizures, as the movements are repeated and often bigger. Clonic seizures can be regulated with a number of medications.(15) The last commonly found seizure caused by epilepsy are atonic seizures. Along with tonic-clonic seizures, atonic seizures are one of the most dangerous type of seizures to …show more content…
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 for creating the protein malin are found in the gene NHBRC1. Malin is a protein that regulates unwanted proteins within a cell. Malin tags unwanted proteins within the cell with ubiquitin, a molecule that signals the destruction of the proteins. Malin interacts with laforin to prevent a buildup of glycogen. Together they prevent the buildup of glycogen in areas it is not meant to be stored, such as the nervous system.(8) When there is a malfunction in the NHLRC1 gene or the EPM2A gene, either the malin or laforin proteins do not work correctly and a build up of lafora bodies, abnormal glycogen that cannot be broken down or used for fuel, forms and damages cells. The mutations forming lafora bodies, ultimately cause neurons to die and disrupts the normal functions within the brain causing the patient to have seizures and develop epilepsy among other symptoms.(9) The most commonly found seizures with this disorder are
Epilepsy is a disorder that affects the brain causing seizures. Seizures occur when the nerve cells in the brain release more energy than the brain can control. There are many different types of seizures. Seizures are commonly grouped under the terms generalized and partial, also referred to as focal onset seizures. Generalized seizures affect the whole brain at one time, while focal onset seizures …show more content…
Tonic seizures occur when muscles, normally in the arms and legs, suddenly stiffen. Often when a tonic seizure occurs, the person experiencing the seizure will fall to the ground. Tonic seizures normally last less than twenty seconds and most people remain conscious during them. A number of medicines can be prescribed to help control tonic seizures, including Primidone (Mysoline). Tonic seizure can be found alone, but are most commonly found combined with clonic seizure as a tonic-clonic seizure. In a tonic-clonic seizure, it begins as a tonic seizure, then transitions into a clonic seizure.(15)
Clonic seizures are characterized by repeated jerking in the arms and/or legs. The jerking will not stop when limbs are restrained or moved. Clonic seizures are more noticeable than absence or myoclonic seizures, as the movements are repeated and often bigger. Clonic seizures can be regulated with a number of medications.(15) The last commonly found seizure caused by epilepsy are atonic seizures. Along with tonic-clonic seizures, atonic seizures are one of the most dangerous type of seizures to …show more content…
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 for creating the protein malin are found in the gene NHBRC1. Malin is a protein that regulates unwanted proteins within a cell. Malin tags unwanted proteins within the cell with ubiquitin, a molecule that signals the destruction of the proteins. Malin interacts with laforin to prevent a buildup of glycogen. Together they prevent the buildup of glycogen in areas it is not meant to be stored, such as the nervous system.(8) When there is a malfunction in the NHLRC1 gene or the EPM2A gene, either the malin or laforin proteins do not work correctly and a build up of lafora bodies, abnormal glycogen that cannot be broken down or used for fuel, forms and damages cells. The mutations forming lafora bodies, ultimately cause neurons to die and disrupts the normal functions within the brain causing the patient to have seizures and develop epilepsy among other symptoms.(9) The most commonly found seizures with this disorder are