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Isabel Derera, Tufts University
(THE CONVERSATION) It can start with a vacant stare, what appear to be muscle twitches or a full-blown seizure. But no matter how it begins, any time a child is diagnosed with epilepsy is often a frightening time for families.
About 470,000 children are living with epilepsy in the U.S. While there are over a dozen anti-seizure medications that can be prescribed, approximately 30% of children don’t respond. These children have what medical professionals call intractable, or uncontrollable, epilepsy.
As a postdoctoral scholar in the lab of Chris Dulla at the Sackler School of Graduate Biomedical Sciences at Tufts University, I focus on researching a form of epilepsy called infantile spasms. These spasms in infants can develop into intractable epilepsy and other more severe forms if the seizures are not stopped.
Recently, promising advances have been made in the field of epilepsy treatment with the development of cannabidiol-derived drugs and the rise of genetic testing. I believe these advances are paving the way to provide treatment options for children with intractable epilepsy.
What is childhood epilepsy?
Epilepsy is usually diagnosed when a person has two or more seizures, greater than 24 hours apart. Medically, a seizure is defined as when abnormal electrical activity occurs in the brain but to an average person it sometimes can be difficult to detect. It might look like a blank stare, or in the case of infantile spasms, muscle twitching. Other times it might be easy to spot because the individual may collapse and shake.
Epilepsy can be genetic; there are over 500 genes that have been associated with the disorder.