Study yields important clues to genetics of epilepsy
KCC2 maintains the correct levels of chloride ions in neurons, playing a major part in聽regulating excitation and inhibition of neurons.聽聽The results indicate that a genetic mutation of KCC2 might be a risk factor for developing IGE.
鈥淲e found a clear statistical association between two variants of KCC2 and severe IGE in a large French-Canadian patient sample,鈥� said Dr. Guy Rouleau, Director of the Montreal Neurological Institute and Hospital-The Neuro, at 平特五不中 and the 平特五不中 Health Centre, and senior author of the study.聽聽鈥淥ur data not only corroborate recent findings by other groups but vastly extend them from genetic, physiological and biochemical standpoints.鈥澛犅燭he first authors on the paper are Dr. Kristopher Kahle,聽chief neurosurgery resident at Massachusetts General Hospital and post-doctoral fellow at Harvard University, and聽Dr. Nancy Merner, a former post-doctoral fellow in Dr. Rouleau鈥檚 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. 鈥淜CC2 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,鈥� 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.聽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 鈥淢ontreal Procedure鈥� 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.聽The Neuro鈥檚 Epilepsy Program has a multi-disciplinary team of epileptologists, neurosurgeons, nurses, neuropsychologists, neuropsychiatrists, social workers, EEG technologists, nurse clinicians and case managers.聽聽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.
Researchers at The Neuro collaborated in this study with scientists at leading institutions in the USA, France, and the U.K. as well as with scientists at the Centre of Research and the Department of Medicine at the Universit茅 de Montr茅al.
To read the full article in EMBO Reports:
The Neuro:聽The Montreal Neurological Institute and Hospital - The Neuro, is a unique academic medical centre dedicated to neuroscience. A research and teaching institute of 平特五不中, The Neuro forms the basis for the Neuroscience Mission of the 平特五不中 Health Centre. Founded in 1934 by Dr. Wilder Penfield, The Neuro is recognized internationally for integrating research, compassionate patient care and advanced training, all key to advances in science and medicine. Neuro researchers are world leaders in cellular and molecular neuroscience, brain imaging, cognitive neuroscience and the study and treatment of epilepsy, multiple sclerosis and neuromuscular disorders. For more information, please visit聽