A recent study funded by the National Institutes of Health (NIH) and published in the Annals of Neurology explored the genetic component that may affect treatment results in children with childhood absence epilepsy (CAE).
“A better understanding of genetic factors underlying a disease and the way that people respond to treatments may help health care providers select the best therapies for children with CAE,” Vicky Whittemore, program director of National Institute of Neurological Disorders and Stroke, part of the NIH, said in a release on the NIH website.
The latest study compared the effects of three CAE medications, ethosuximide, valproic acid and lamotrigine, in 446 children. The research team led by Cincinnati Children’s Hospital Medical Center's Comprehensive Epilepsy Center Director Tracy Glauser focused on three genes that code for T-type calcium channels, which help control the firing rate of brain cells. The study also focused on the gene that controls the transporter that takes drugs out of the brain.
“We identified a potential link between genes and the children’s responses to certain treatments," Glauser said in the release. "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."
CAE generally begins in children between 4 and 8 years old. It is characterized by short seizures that may last less than 20 seconds, when the children stare into space and are not aware of their surroundings. A child may suffer from 100 seizures per day. While some children outgrow absence seizures, others develop more severe seizure disorders.