Skip to main content
Accessibility|Contact|Privacy|Terms of Service

Epileptic Seizures May be Linked to Ancient Gene

  • Published: 2010-08-01 (Revised/Updated 2017-11-06) : Author: Penn State
  • Synopsis: New research points to a genetic route to understanding and treating epilepsy.

Main Document

"We think that this potassium channel plays a role in the brain's ability to remain 'quiet' and to respond selectively to strong stimuli."

New research points to a genetic route to understanding and treating epilepsy.

Timothy Jegla, an assistant professor of biology at Penn State University, has identified an ancient gene family that plays a role in regulating the excitability of nerves within the brain.

"In healthy people, nerves do not fire excessively in response to small stimuli. This function allows us to focus on what really matters. Nerve cells maintain a threshold between rest and excitement, and a stimulus has to cross this threshold to cause the nerve cells to fire," Jegla explained. "However, when this threshold is set too low, neurons can become hyperactive and fire in synchrony. As excessive firing spreads across the brain, the result is an epileptic seizure."

Managing this delicate rest-excitement balance are ion channels - neuronal "gates" that control the flow of electrical signals between cells. While sodium and calcium channels help to excite neurons, potassium channels help to suppress signaling between cells, increasing the threshold at which nerves fire. However, the genetic mechanisms that control the potassium channels and set this threshold are not fully understood. Jegla's team focused on a particular potassium-channel gene - called Kv12.2 - that is active in resting nerve cells and is expressed in brain regions prone to seizure. "We decided that Kv12.2 was a good candidate for study because it is part of an old gene family that has been conserved throughout animal evolution," Jegla said. "This ancient gene family probably first appeared in the genomes of sea-dwelling creatures prior to the Cambrian era about 542-million years ago. It is still with us and doing something very important in present-day animals." Previous studies have suggested that the Kv12.2 potassium channel has a role in spatial memory, but Jegla and his team focused on how it might be related to seizure disorders.

In collaboration with Jeffrey Noebels at Baylor College of Medicine, the team used an electroencephalography (EEG) device to monitor the brains of mice. They found that mice missing the Kv12.2 gene did indeed have frequent seizures, albeit without convulsions. The team then stimulated mice with a chemical that induces convulsive seizures. They found that normal mice had a much higher convulsive-seizure threshold than mice with a defective Kv12.2 gene. The team also found the same results when they used a chemical inhibitor to block the Kv12.2 potassium channel in normal mice.

"In mice without a functioning Kv12.2 gene, nerve cells had abnormally low firing thresholds. Even small stimuli caused seizures," Jegla explained. "We think that this potassium channel plays a role in the brain's ability to remain 'quiet' and to respond selectively to strong stimuli."

Jegla hopes to open up new avenues of epilepsy research by studying whether activation of the Kv12.2 potassium channel in normal animals can block seizures. "Ion-channel defects have been identified in inherited seizure disorders, but many types of epilepsy don't have a genetic cause to begin with," Jegla explained. "They are often caused by environmental factors, such as a brain injury or a high fever. However, the most effective drugs used to treat epilepsy target ion channels. If we can learn more about how ion channels influence seizure thresholds, we should be able to develop better drugs with fewer side effects."

In addition to Jegla and Noebels, other scientists who contributed to this research include Xiaofei Zhang, Federica Bertaso, Karsten Baumgartel, and Sinead M. Clancy of the Scripps Research Institute; Jong W. Yoo of the Baylor College of Medicine; and Van Lee, Cynthia Cienfuegos, Carly Wilmot, Jacqueline Avis, Truc Hunyh, Catherine Daguia, and Christian Schmedt of the Genomics Institute of the Novartis Research Foundation. This research was funded by the National Institutes of Health through its National Institute for Neurological Disorders and Stroke.

Similar Topics

1 : Early Indicators: High Functioning Autism and Aspergers Syndrome : Michelle Fattig.
2 : People Who Hear Voices Can Detect Hidden Speech in Unusual Sounds : Durham University.
3 : Neurological Link Between Religious Experiences and Epilepsy : University of Missouri-Columbia.
4 : Cat Ownership Not Linked To Mental Health Problems : University College London.
5 : Possible Major Advance for Neurological Diseases Following New discovery : University of Bristol.
From our Neurological Disorders section - Full List (81 Items)


Submit disability news, coming events, as well as assistive technology product news and reviews.


Loan Information for low income singles, families, seniors and disabled. Includes home, vehicle and personal loans.


Famous People with Disabilities - Well known people with disabilities and conditions who contributed to society.


List of awareness ribbon colors and their meaning. Also see our calendar of awareness dates.


Blood Pressure Chart - What should your blood pressure be, and information on blood group types/compatibility.





1 : Telemedicine Helps Overcome Healthcare Gender Based Barriers
2 : Screen Reader Plus Keyboard Helps Blind, Low-Vision Users Browse Modern Webpages
3 : Our Digital Remains Should be Treated with Same Care and Respect as Physical Remains
4 : Tungsten: Concern Over Possible Health Risk by Human Exposure to Tungsten
5 : Student Loan Discharge Process for Disabled Veterans Made Easier
6 : Growing Bone and Cartilage Tissues for Humans from Flaxseed Like Particles
7 : Throat Reflexes Differ in People with Tetraplegia and Sleep Apnea
8 : UTA Grant to Help Minority Students Link Assistive Technology with Disability Studies
9 : Body Probe as Thin as a Hair Has Imaging Function and Temperature Sensor
10 : Dripping Candle Wax Bone Disease (Melorheostosis) Cause Solved


Disclaimer: This site does not employ and is not overseen by medical professionals. Content on Disabled World is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of a physician or other qualified health provider with any questions you may have regarding a medical condition. See our Terms of Service for more information.

Reporting Errors: Disabled World is an independent website, your assistance in reporting outdated or inaccurate information is appreciated. If you find an error please let us know.

© 2004 - 2018 Disabled World™