Featured Research

from universities, journals, and other organizations

Important clues to genetics of epilepsy uncovered by International study

Date:
June 16, 2014
Source:
McGill University
Summary:
A significant genetic component of Idiopathic Generalized Epilepsy, the most common form of epilepsy, has been discovered by an international team of researchers. Epilepsy is a neurological disorder characterized by sudden, uncontrolled electrical discharges in the brain expressed as a seizure. The new research implicates a mutation in the gene for a protein, known as cotransporter KCC2.

An international team of researchers has discovered a significant genetic component of Idiopathic Generalized Epilepsy (IGE), the most common form of epilepsy. Epilepsy is a neurological disorder characterized by sudden, uncontrolled electrical discharges in the brain expressed as a seizure. The new research, published in this week's issue of EMBO Reports, implicates a mutation in the gene for a protein, known as cotransporter KCC2.

KCC2 maintains the correct levels of chloride ions in neurons, playing a major part in regulating excitation and inhibition of neurons. The results indicate that a genetic mutation of KCC2 might be a risk factor for developing IGE.

"We found a clear statistical association between two variants of KCC2 and severe IGE in a large French-Canadian patient sample," said Dr. Guy Rouleau, Director of the Montreal Neurological Institute and Hospital-The Neuro, at McGill University and the McGill University Health Centre, and senior author of the study. "Our data not only corroborate recent findings by other groups but vastly extend them from genetic, physiological and biochemical standpoints." The first authors on the paper are Dr. Kristopher Kahle, chief neurosurgery resident at Massachusetts General Hospital and post-doctoral fellow at Harvard University, and Dr. Nancy Merner, a former post-doctoral fellow in Dr. Rouleau's laboratory and now a professor at Auburn University.

The study examined 380 French Canadians with IGE living in Montreal and Quebec City. Results were compared to data from a control group of more than 1,200 people. "KCC2 is a hot topic in neuroscience given its important role in neuronal signaling and in its potential role in neurological diseases such as epilepsy, neuropathic pain, and other diseases," said Dr. Rouleau.

Each day in Canada, an average of 42 people learn that they have epilepsy. In 50 -- 60% of cases, the cause of epilepsy is unknown. The major form of treatment is long-term drug therapy. Drugs are not a cure and can have numerous, sometimes severe, side effects. Brain surgery is recommended only when medication fails and when the seizures are confined to one area of the brain where brain tissue can be safely removed without damaging personality or function.

The Neuro has been at the forefront of epilepsy treatment and research for over half a century. The "Montreal Procedure" developed at The Neuro revolutionized the surgical treatment for epilepsy. The use of EEG and MRI for the study and treatment of epilepsy was also pioneered at The Neuro.The Neuro's Epilepsy Program has a multi-disciplinary team of epileptologists, neurosurgeons, nurses, neuropsychologists, neuropsychiatrists, social workers, EEG technologists, nurse clinicians and case managers.The Program provides both in-patient and out-patient evaluation and treatments for more than 3000 patients a year and the EEG Clinic conducts almost 4,000 electroencephalograms each year.


Story Source:

The above story is based on materials provided by McGill University. Note: Materials may be edited for content and length.


Journal Reference:

  1. K. T. Kahle, N. D. Merner, P. Friedel, L. Silayeva, B. Liang, A. Khanna, Y. Shang, P. Lachance-Touchette, C. Bourassa, A. Levert, P. A. Dion, B. Walcott, D. Spiegelman, A. Dionne-Laporte, A. Hodgkinson, P. Awadalla, H. Nikbakht, J. Majewski, P. Cossette, T. Z. Deeb, S. J. Moss, I. Medina, G. A. Rouleau. Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy. EMBO reports, 2014; DOI: 10.15252/embr.201438840

Cite This Page:

McGill University. "Important clues to genetics of epilepsy uncovered by International study." ScienceDaily. ScienceDaily, 16 June 2014. <www.sciencedaily.com/releases/2014/06/140616130909.htm>.
McGill University. (2014, June 16). Important clues to genetics of epilepsy uncovered by International study. ScienceDaily. Retrieved July 22, 2014 from www.sciencedaily.com/releases/2014/06/140616130909.htm
McGill University. "Important clues to genetics of epilepsy uncovered by International study." ScienceDaily. www.sciencedaily.com/releases/2014/06/140616130909.htm (accessed July 22, 2014).

Share This




More Mind & Brain News

Tuesday, July 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Why Do People Believe We Only Use 10 Percent Of Our Brains?

Why Do People Believe We Only Use 10 Percent Of Our Brains?

Newsy (July 22, 2014) The new sci-fi thriller "Lucy" is making people question whether we really use all our brainpower. But, as scientists have insisted for years, we do. Video provided by Newsy
Powered by NewsLook.com
Do Obese Women Have 'Food Learning Impairment'?

Do Obese Women Have 'Food Learning Impairment'?

Newsy (July 18, 2014) Yale researchers tested 135 men and women, and it was only obese women who were deemed to have "impaired associative learning." Video provided by Newsy
Powered by NewsLook.com
Does Mixing Alcohol and Energy Drinks Boost Urge To Drink?

Does Mixing Alcohol and Energy Drinks Boost Urge To Drink?

Newsy (July 18, 2014) A new study suggests that mixing alcohol with energy drinks makes you want to keep the party going. Video provided by Newsy
Powered by NewsLook.com
Pot Cooking Class Teaches Responsible Eating

Pot Cooking Class Teaches Responsible Eating

AP (July 18, 2014) Following the nationwide trend of eased restrictions on marijuana use, pot edibles are growing in popularity. One Boston-area cooking class is teaching people how to eat pot responsibly. (July 18) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins