Childhood & rare disorders

Epilepsy

What is Epilepsy?

Epilepsy is a chronic disorder, the hallmark of which is recurrent, unprovoked seizures. Many people with epilepsy have more than one type of seizure and may have other symptoms of neurological problems as well.

Epilepsy is a central nervous system disorder (neurological disorder) in which nerve cell activity in the brain becomes disrupted, causing seizures or periods of unusual behavior, sensations and sometimes loss of consciousness.

Epilepsy is common, affecting babies, children, men, and women of all ages and all ethnic backgrounds. However, seizures and epilepsy are more common in children and in older individuals. One-third of individuals with autism have seizures.

Some basic facts about Epilepsy

It is estimated that 1 in 26 Americans will be diagnosed with epilepsy in their lifetimes. There are 3 million affected individuals in the US and an estimated 65 million worldwide.

Individuals with epilepsy have seizures, with or without obvious symptoms. Symptoms of epilepsy can include: staring, lip smacking, abnormal eye movements, jerking movements of the arms and legs, and loss of consciousness. Some individuals who have epilepsy have other neurologic or medical concerns. Some individuals with epilepsy have family members with epilepsy.

Epilepsy is classified into various types. There are generalized forms of epilepsy (originating in both halves of the brain) and focal seizures which originate in one particular area of the brain. Some seizures do not fit into either of these categories and are called infantile spasms. Individuals with epileptic encephalopathy have severe, hard to control seizures which can lead to cognitive impairment.

What causes Epilepsy and how is it diagnosed?

There are many causes of epilepsy including: abnormal brain structure, tumors, metabolic disorders, and genetic syndromes. In some cases, the cause remains unknown.

The type of epilepsy is often diagnosed by an electroencephalogram (EEG) and brain imaging (MRI, CT). A physical examination, reviewing the patient’s medical and family history and observing the seizures often helps the physician make the diagnosis of epilepsy.

Role of genetics in diagnosis

Genetic testing can elucidate the type of epilepsy and/or identify an underlying syndrome that is causing the seizures. About 50% of cases with epilepsy are thought to have a genetic basis.

Some types of epilepsy and the gene responsible include:

  • Dravet syndrome: SCN1A
  • Ohtahara syndrome: STXBP1
  • Tuberous sclerosis: TSC1 TSC2
  • Pyridoxine-dependent epilepsy ALDH7A1
  • Glucose transporter deficiency: SLC2A1
  • PCHD19 related epilepsy

How is Epilepsy treated?

Epilepsy is most often treated with medications. Sometimes surgery or vagal nerve stimulation is helpful. In some patients, a diet modification (for example, the ketogenic diet which is a high-fat low-carbohydrate diet) is useful. You should speak with your provider about any treatment including diet changes.

Role of genetics in treatment

Sometimes confirming the type of epilepsy helps the physician choose the most effective treatment. If the cause of the epilepsy is a particular genetic disorder or syndrome, additional health concerns may need to be monitored. If a genetic disorder is identified, genetic testing for other family members may be indicated to assess their risk for epilepsy or for having children with epilepsy.

How do I arrange for genetic testing?

Your physician will assist you in identifying and arranging for the appropriate genetic test(s). If you have specific questions or concerns about the testing, your physician may refer you to a genetic counselor to discuss further. Once you are ready to proceed with genetic testing, you will need to submit either a blood or saliva sample.