The Epilepsies – Imagining Our Future

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Tuesday, May 16, 2017

The epilepsies are neurological disorders of the brain characterized by seizures. Due to the range of differing causes and seizure types, the epilepsies are a spectrum of syndromes that impact individuals and their families to varying degrees. Just like there are many different types of cancer of different causes and severities that require tailored individualized treatment, different epilepsies also require different treatments.

The Epilepsy Foundation of Greater Los Angeles recently hosted their biannual End Epilepsy Summit. This conference brings together professionals, agencies, and families to discuss recent advances in epilepsy research and care. As the director of the Epilepsy Foundation's Epilepsy Innovation Institute (Ei2), I took part in the conversation and participated in some of the presentations and panels. Not surprisingly, genetics was a big part of the discussion.

Genetics & Epilepsy

Epilepsy.com and Citizen's United for Research in Epilepsy's (CURE’s) Epilepsy Genetics Initiative both highlight the gene mutations linked to epilepsy. Many of these genes are linked to epileptic encephalopathy (severe epilepsy cases in children). These genes are often important for brain development and function.

Based on recent studies, the number of genes that are not directly related to developing epilepsy but carry a high risk of developing epilepsy jumps from 76 to many hundreds of genes. Clearly, genetics have a much bigger role in epilepsy than previously assumed.

Our Future is Here – Genetics is Revolutionizing Care

We used to imagine a future where a clinician would use a person’s genetic information to develop a customized treatment plan for the patient. This type of treatment is known as precision medicine. As we learn more and more about genetics and epilepsy, the possibilities for precision medicine in epilepsy are becoming possible.

Epilepsy genetics is already starting to assist in the diagnosis and treatment of some epilepsy subtypes. For example, infants with epilepsy that have a KCNQ2 genetic mutation do better on sodium channel blockers. Meanwhile, people diagnosed with Dravet syndrome who have a SCN1a genetic mutation should avoid sodium channel blockers.

As more and more is learned in the epilepsy genetics field, we can begin to imagine a future of improved care.

Genetics & Epilepsy Diagnosis

Epilepsy can sometimes be misdiagnosed as another neurological condition such as migraines, sleep disorder, autism, or attention deficit hyperactivity disorder (ADHD). The misdiagnosis can result in the wrong treatment. Some of these hard to diagnose conditions have a genetic component associated with their epilepsy subtype. We are at the point where some genetic tests can be prescribed and meaningfully interpreted. And one can imagine a future where genetic testing will be used routinely to assist in diagnosis.

Genetics & Epilepsy Prognosis

An important question for families is knowing whether the epilepsy is self-limiting. Self-limiting is a medical term meaning that the person will eventually grow out of their epilepsy and no longer have seizures. Certain genetic variants are associated with self-limiting epilepsy while others are associated with more severe forms. As research in this area continues, genetic testing could potentially help people with epilepsy and their families prepare for their treatment journey.

Genetics & Treatment Selection

There are certain genetic mutations that help a clinician decide how likely a person with epilepsy will respond to treatment.

  • Just this year, a study showed that genetic variations in childhood absence epilepsy play a huge role in deciding which anti-seizure drug the child should be prescribed. This is one of the first studies to do so. With this type of testing, the future of epilepsy treatment could include genetic testing.
  • Genetics may also play a role in determining whether someone is a good candidate for surgery treatment. This video tells the story of a girl named Gracie. Gracie was scheduled for epilepsy surgery but genetic testing revealed she had a mutation in GLUT1, a glucose transporter. Based on these findings, the doctors knew that surgery would not have worked but a dietary therapy could be very successful. Gracie now has better seizure control and is back to her happy, fun-loving self.

Genetic Testing: Only Scratching the Surface

Genetic testing is changing the way clinicians are thinking about diagnosing and treating epilepsy. We still have a long way to go. As one doctor mentioned during the conference, epilepsy is more complicated than a genetic test. There are also cases that may not have a genetic component at all, such as certain head trauma cases. Additionally, certain epilepsy syndromes may not need genetic testing to be identified and treated correctly.

We are only scratching the surface of what could be possible. Genetics allows us to imagine a path towards customized treatment. That, in and of itself, is a game changer.

Authored by: Sonya Dumanis PhD | Director of the Epilepsy Innovation Institute on 5/2017
Reviewed by: Dr. Jacqueline French | Chief Scientific Officer on 5/2017
Care & Cure 2017

Learn about Gracie and Annabelle, two children living with seizures and their treatment story. The video was show at the Care & Cure 2017 benefit for children with epilepsy. 

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The mission of the Epilepsy Foundation is to lead the fight to overcome the challenges of living with epilepsy and to accelerate therapies to stop seizures, find cures, and save lives.

 
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