Over half of all cases of epilepsy are genetic. Five years ago, only 30 percent of epilepsy cases were thought to have a genetic cause. Until recently, epilepsy’s etiology, or underlying cause, was “unknown” in 75 percent of patients. Now, gene sequencing is helping doctors and health professionals understand the disease better.

Genetic link

Parallel gene-sequencing studies show genetics may unlock some of the mystery of the disease, which involves recurrent, unprovoked seizures. These studies have revealed two patterns: one gene can be linked with multiple epilepsy syndromes; and one epilepsy syndrome can be linked with multiple genes.

Understanding a patient’s genetics can help doctors both diagnose and treat the patient’s epilepsy. It can even pinpoint therapies to avoid.

According to a 2013 study of doctors who identified patients with a specific gene variant known to cause Dravet syndrome, a type of epilepsy, nearly half of the 163 doctors said the positive genetic test resulted in a earlier diagnosis than with just clinical and EEG data. The doctors also reported the genetic diagnosis changed their approach to treatment in almost 70 percent of cases; prevented additional patient testing in 67 percent of patients and improved seizure control through mediation changes in over 40 percent of patients.

“A more targeted treatment plan, based on a patient’s specific genetic profile, may help avoid or reduce unnecessary or expensive diagnostic testing...”

More accurate diagnostics

Genetic testing can result in an accurate diagnosis and treatment plan for the patient but it can also benefit family members who may be predisposed to the disease as well.

In cases of inherited epilepsies there is a lot of overlap in signs and symptoms. Yet symptoms can still vary in family members. Without a genetic test, it can be a challenge for doctors to make an accurate clinical diagnosis.

More precise treatment

Genetic testing can pinpoint which cases of epilepsy are inherited and which ones are de novo variations, an alteration present for the first time in a family member.

Patients can benefit from genetic testing since it can accelerate an accurate diagnosis and help doctors get them the most appropriate treatments for their type of epilepsy. Early diagnosis can help patients get targeted treatments and sooner than they would through standard diagnoses. For example, patients who have one specific type of gene variant benefit from early diagnosis because treatment can prevent irreversible neuronal damage.

A more targeted treatment plan, based on a patient’s specific genetic profile, may help avoid or reduce unnecessary or expensive diagnostic testing — like imaging. Even if therapies might not currently exist for a patient, that could change in the future as new therapies are developed.