Epilepsy Health Article

Genetic profile

Genetic factors contribute to about 40% of all epilepsy cases. Most of the generalized epilepsy syndromes and some of the partial epilepsy syndromes have an inherited component. Medical researchers suggest that at least 500 genes may somehow be involved in the development of various forms of epilepsy. It is believed that some of these genes can make people with epilepsy more susceptible or sensitive to environmental factors that initiate or start seizures. Only a few types of epilepsy are thought to be caused by just one type of gene.

Gene mutations can cause a variety of nervous system abnormalities that are associated with epilepsy. Different mutations may lead to abnormal brain development or progressive degeneration of brain tissue. Some gene mutations make nerve cells "hyperexcitable." These abnormal nerve cells can trigger outbursts of abnormal patterns of electrical activity that can initiate an epileptic seizure.

Specific gene locations (called gene markers) have been linked to various forms of the disease, such as juvenile myoclonic epilepsy. However, researchers have discovered that some individuals who possess this gene do not develop symptoms of this disease. In some pairs of identical twins with this gene, one twin may appear normal while the other develops typical symptoms of epilepsy. Thus, genetic inheritance seems to be just one of many factors that influence the possibility of developing epilepsy symptoms.

Some genetic mutations may also reduce the effectiveness of antiepileptic medication. One of the major goals of epilepsy research is to determine how a patient's genetic makeup can influence their drug therapy.

Demographics

Epilepsy affects about one percent of the population. Approximately 2.3 million Americans and 40 million people throughout the world have epilepsy. It is the second-most common neurological disorder. The highest incidence is in children under 10 and elderly over 70.

Signs and symptoms

Patients have little warning that they are about to experience an epileptic seizure. Some unusual feeling or "aura" which can act as a warning that an episode is about to start generally precedes actual seizures. An "aura" may take the form of an unusual sensation such as a fearful feeling, a mental image, or an unusual taste, smell, or sound. Some patients who do not experience seizures during the day or who have prolonged "auras" or warnings of an impending seizure can be permitted to drive. Getting a good night's sleep is a common problem for young children with epilepsy. Lack of sleep can then lead to behavior problems and constant drowsiness during the daytime. A stupor may follow a seizure.

Diagnosis

Early symptoms of epilepsy include excessive staring, easy distraction, and difficulty in maintaining attention. To confirm the diagnosis, doctors look for neurological (nervous system) abnormalities such as speech or vision defects, defects in brain structure or other parts of the nervous system. The goal of the diagnositic testing is to identify where the seizures are originating. EEGs (electroencephalographs) are used to monitor electric activity—patterns of nerve impulses in the brain. A type of "brain scan" called MRI is also used extensively to try to pinpoint the location and type of abnormalities (referred to as lesions) in brain structure, which cause episodes of epileptic seizures. Idiopathic epilepsy—those cases for which no specific cause can be identified—are presumed to have a genetic basis.

Treatment and management

Currently, no cure exists for epilepsy. However, a wide range of treatment programs are available that provide varying degrees of success in controlling the symptoms of epilepsy.

Medication is the most effective and widely used treatment for the symptoms of epilepsy. Most medications work by interfering with or stopping the abnormal electrical activity in nerve cells that cause seizures. This form of treatment is generally referred to as anticonvulsant therapy. Medication is considered effective if the patient is free of seizures for at least one year.

Anticonvulsants are powerful drugs that can produce a variety of side effects, including nausea, fatigue, dizziness, and weight change. They can also increase the risk of birth defects, especially involving the early stages of embryonic development of the nervous system if taken during pregnancy.

Doctors prefer to put their patients on just one type of anticonvulsant drug. Some patients, however, experience more effective relief from their epilepsy symptoms by taking a combination of two different but "complementary" forms of medication. The choice of medication depends on the type of seizure that affects a patient, the patient's medical history—including response to other drug therapies, their age, and gender. For example, the drug Carbamazepine is one of the most effective medications and has little impact on important cognitive functions such as thinking, memory and learning.

Newer medications generally produce fewer side effects than their predecessors. Research into gene therapy may ultimately be the most effective form of epilepsy treatment, but is still in the very early stages.

Unfortunately, medication is ineffective for more than one third of known cases of epilepsy. More than 30% of patients with epilepsy cannot maintain adequate control of their seizures. Some genetic mutations may reduce the effectiveness of antiepileptic medications.

Surgery is recommended for some patients for whom medication cannot effectively control the frequency or severity of their seizures. Surgery is a treatment option only in extreme cases where doctors can identify the specific site in the brain where seizures originate. The most promising candidates for surgery are those with a single lesion on the temporal, frontal, or occipital lobes of the brain.

Prior to surgery, the patient must complete extensive testing to determine the precise patterns of seizures and to locate their point of origin in the brain. Patients spend extended stays in hospital during which their seizures are recorded on video and with the aid of EEGs. This machine records patterns of electrical activity in the brain using sensors (referred to as "electrodes") attached to various parts of the body.

The surgical procedure involves the removal of a small part of brain tissue in the "suspected" region. The anterior temporal lobe and hippocampus are the most common areas in which tissue is removed. In some studies, more than 83% of patients become free of seizures following surgery. Ninety-seven percent show significant improvement in their condition.

Vagus Nerve Stimulation (VNS) is another form of treatment for some cases of epilepsy that are unresponsive (referred to as "refractory epilepsy") to other forms of medical therapy. VNS may also be recommended for patients who cannot tolerate the side effects of medication. This procedure involves implanting a device that stimulates the Vagus nerve, located in the left side of the neck. In one study, this treatment reduced seizures by 78%.

A special dietary program is another treatment option for patients who are not good candidates for surgery or who have had little success with anticonvulsant medication. This form of treatment called the Ketogenic Diet can be effective for many types of epilepsy. It is most appropriate for young children whose parents can follow the rigid requirements of the diet. Older children and adults tend to have greater difficulty in sticking to the dietary rules for an extended period of time. The Ketogenic Diet is a stringent diet that is very high in fat, but low in proteins, carbohydrates, and calories. The excessive fat produces high levels of a substance called ketone (which the body makes when it breaks down fat for energy). Somehow these ketones help reduce the incidence of epileptic seizures. The success of this form of treatment varies. For some patients, the high fat diet is the best form of treatment. For others, the diet is less effective.