Study Suggests Genes May Determine Best Childhood Epilepsy Treatment

A recent study funded by the National Institute Of Neurological Disorders and Stroke (NINDS) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), both branches of the National Institutes of Health (NIH)suggests genes may play a role in determining the best treatment options in children who have absence epilepsy.

Childhood Absence Epilepsy (CAE) is the most common form of pediatric epilepsy.  It is characterized by absence seizures which cause the patient to stare into space, unaware of what’s going on around them.  While these seizures are brief (20 seconds or less) the child may have up to 100 a day.  Doctor’s continue to struggle with prescribing the same medications to patients with the same symptoms, but seeing the results vary.  In some cases, one child may see a drastic improvement in seizures, while another sees no change.

A clinical trial led by Tracy A. Glauser, M.D., Director of the Comprehensive Epilepsy Center at Cincinnati Children’s Hospital and Professor of Pediatrics at the University of Cincinnati College of Medicine, observed 446 children recently diagnosed with CAE who used the three most common drug treatments; Ethosuximide (Zarontin), Valproic Acid (Depakote) and Lamotrigine (Lamictal). The purpose was to determine if there was a genetic basis for the varying success results.  The study focused on three genes that help control the firing rate of the brain.  The results suggest that genetic testing may help determine which medication regiment will work best.

Dr. Glauser said, “We identified a potential link between genes and the children’s’ responses to certain treatments. We were also able to clearly show that one variant caused a change in how a key calcium channel responded to ethosuximide, confirming what was found in the clinical trial.”

Vicky Whittemore, Ph.D., Program Director at NINDS goes on to say “A better understanding of genetic factors underlying a disease and the way that people respond to treatments may help healthcare providers select the best therapies for children with CAE.”

While the results are promising, more research is needed about specific genes and their involvement in CAE and influences on the effect of anti-epleptic drugs.  In addition, researchers will continue to what other factors besides genetics may influence treatment response.

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