Hello and welcome to today's live chat with epilepsy researchers Michael Hammer, UA’s director of Human Genomics Core and Dr. Dinesh Talwar, a clinical associate professor at the UA Health Sciences Center Department of Pediatrics and Neurology. The hour-long chat begins at 11:30 a.m. and the pair will be answering your epilepsy-related questions.
To participate write your questions in the comment box. This is a moderated chat, meaning questions will be selected by our moderator and appear in the live feed before they are answered. Today's moderator is Arizona Daily Star senior editor Jill Spitz.
Epilepsy is recurrent, unprovoked seizures. Most epilepsy is not difficult to treat. About 70 percent of all patients with epilepsy are controlled on medications. However, in 30 percent or so, seizures can be difficult to treat. Some of those may be candidates for surgery.
A de novo (new) mutation is a change in a gene that occurs only in the child, that is- it is not found in the parents.most of the time it happens in the germ line of one of the parents (egg or sperm). we all have about 100 de novo mutations that are unique to us, most of which do not have any negative consequence.
Of all childhood epilepsies, 30 percent start in infancy. In many cases, a cause can be found. We are now finding in cases with no apparent cause, or family history, a de novo mutation is likely to be found.
Two unprovoked seizures classifies as an epilepsy, or a disorder. If the seizures are provoked by something, then it would not be classified as an epilepsy. Fever is a common provoking cause in children. Alcohol withdrawal is a common provoking cause in adults.
Discovering the cause of epilepsy can relieve families of the not knowing that is so painful when their child is suffering. in some cases it may change the way it is treated and hopefully in the long run will teach us how to find new treatments. it also helps us understand the biochemical pathways that function in the brain and lead to new insights on how our brains work. this will provide information to pharmaceutical companies develop new treatments to target specific proteins or ion channels in the brain.
Most adult-onset epilepsy would not be secondary to genetic causes. In circumstances where no cause is found, and the epilepsy is associated with neurological deterioration in other areas, genetic testing may be helpful.
Dr. Hammer, your daughter Shay had autism in addition to epilepsy. Are the two often linked?
Yes, about 25% of children with severe epilepsy have autistic features and about 25% of autistic children have seizures.
Sometimes changing the preparation of D
epakote to the extended-release preparation may reduce or eliminate side effects. It looks like he has generalized epilepsy. Surgery is unlikely to be of benefit. There are other medicines that can be used for generalized epilepsy and can be discussed with your physician.
Genetic testing is already important and is becoming more common. one of the limiting aspects is whether insurance companies will pay for such testing, and AHCCCS plans rarely pay. Genetic testing will not replace anti-convulsants but will help the development of better anti-convulsants.
Seizures are epileptic or non-epileptic. Traumatic experience is more likely to induce non-epileptic seizures, or seizures induced by stress or anxiety. These are also referred to as psychogenic seizures.
Genetic testing that involves looking at all the genes (or genome) has the potential to identify problems other than what was originally being tested for. these incidental findings as they are called present a challenge to the practice of whole genome testing and require the consent of the patient or family to determine whether this information is shared. if the insurance company pays than it will be privy to this information, but it is not clear at this point how this will affect the insurability of the patient.
Mood disorders are not uncommonly associated with epilepsy. Some of the medicines used to treat epilepsy also treat mood disorders. Treatment of the epileptic activity may increase or decrease the mood disorder. It is difficult to predict and each individual person has to be assessed for response to treatment. It can go either way; that's the problem.
Dr. Hammer, you are pursuing federal certification that would let you do genetic testing for a fee. What is the status of that effort?
Our core facility at the University is applying for certification to perform genetic testing and provide an official report to a doctor. this process is expected to take a few months. once we are certified we will be able to provide this service for a fee.
What could be done to encourage insurance companies to pay for genetic testing?
Public and governmental pressure, which is related because the public pressures our elected officials.
About 70 percent of all childhood-onset epilepsies are outgrown. If seizures start below the age of 12, there is approximately a 70 percent chance of coming off medicine. Some teenagers may also outgrow their epilepsy. Adult-onset epilepsies, however, are rarely outgrown.
If a person has more than one type of seizure, the cause for each does need to be investigated. About 25 percent of all adults studied with video EEG monitoring have both epileptic and non-epileptic seizures.
Is there a way for the general public to become a patient, or help the UA develop a genomic medicine center?
The UA is well positioned to become a Genomic Medicine center given our expertise in genomics and our excellent clinics and doctors. to become a center we need to invest to build the infrastructure that connects research to the clinic, which means new hiring in several areas as well. the idea would be to provide access to the local public to such genomic medicine clinics. the public can help make this a reality by letting the administration at the UA know that a genomic medicine center in Tucson is of utmost interest and importance.
Epilepsy and Tourette are different disorders and epilepsy medications are generally not effective for treatment of tics of Tourette syndrome.
Generally, menopause would not be a cause for seizures. However, some seizure disorders do start around puberty and coincide with hormonal changes that occur at that time. It is unclear whether the hormones have a direct effect.