Navigation Links
Fragile period of childhood brain development could underlie epilepsy

BOSTON A form of partial epilepsy associated with auditory and other sensory hallucinations has been linked to the disruption of brain development during early childhood, according to a study led by researchers at Beth Israel Deaconess Medical Center (BIDMC).

Described in today's Advance On-line issue of Nature Medicine, these new findings provide the first genetic link between childhood brain development and a seizure disorder that lasts throughout adulthood, and also identify a new pathway that controls how neuron circuits are "pruned" and matured.

"During early childhood roughly between the ages of one and five the brain undergoes a period of major circuit remodeling," explains senior author Matthew Anderson, MD, PhD, a principal investigator in the Departments of Neurology and Pathology at BIDMC. "Our discovery that a familial form of temporal lobe epilepsy can develop at this point demonstrates the fragility of the brain during this critical period."

The new findings focus on the development of synapses, the connections between brain cells.

"At birth, the brain is loaded with excitatory synapses which help make nerve cells 'fire,'" explains Anderson, who is also an Assistant Professor of Neurology and Pathology at Harvard Medical School. "However, if these excess synapses are not adequately 'pruned,' they can overgrow, leading to excessive transmission of excitatory signals and the development of pathological conditions, including learning disabilities and autism in addition to epilepsy."

Using a genetically engineered mouse model created in his laboratory, together with brain slice patch-clamp electrophysiology techniques, Anderson and his scientific team found that a mutant form of the LGI1 (leucine-rich glioma-inactivated 1) gene was preventing the normal brain development.

"The first clue was our discovery that LGI1 is not expressed until the exact time when excitatory synapses are matured," said Anderson. "We subsequently learned that the mLGI1 gene was indeed prohibiting excitatory synapses from being adequately pruned, leading to an increased excitability of circuits in the brain which left it prone to excessive synchronous discharges that are characteristic of epilepsy."

Autosomal dominant lateral temporal lobe epilepsy (ADLTE) is characterized by frequent partial seizures (two to five per month) that are associated with auditory or other sensory auras. Tonic-clonic seizures also occur in the majority of ADLTE patients, but are infrequent, developing only about once a year.

"These partial seizures can have a significant impact on a patient's quality of life," notes Anderson. "Because patients can be disoriented and excessively tired following a seizure event, their day-to-day lives can sometimes be seriously disrupted. And when it comes to driving and other activities, there is still a real danger associated with this condition.

"One important reason to identify genetic causes of epilepsy is the hope that these discoveries will eventually lead to new therapies," he adds. "By identifying this new pathway, we may have found a new target for future drug development."


Contact: Bonnie Prescott
Beth Israel Deaconess Medical Center

Related medicine news :

1. $21.8 Million NIH Grant for Fragile X Research
2. Stem cell research produces a key discovery for Fragile X Syndrome
3. Brain Defect Helps Drive Fragile X Syndrome
4. Fragile X Foundations Sign Merger Agreement
5. Fragile X Syndrome Corrected in Mice
6. Drosophila drug screen for fragile X syndrome finds promising compounds and potential drug targets
7. The Area's Most Fragile Babies Have a New Home
8. The Most Fragile Babies in the Nations Capital Have a New Home
9. Earlier Testing Needed for Fragile X Syndrome
10. NIH Plan Charts Course to Better Treatments and Cure for Most Common Known Genetic Cause of Autism: Fragile X
11. Microtek Medical Receives Early Termination of Hart-Scott-Rodino Act Waiting Period for Its Proposed Acquisition by Ecolab
Post Your Comments:
(Date:11/25/2015)... ... ... Smiles by Stevens is pleased to announce the addition of ... patients are aware of the benefits of Botox® in the treatment of moderate facial ... discomfort, soreness, and pain as a result of Jaw Tension, TMJ (temporo-mandibular joint) disorder, ...
(Date:11/25/2015)... ... November 25, 2015 , ... Beddit® has launched a ... sleep tracking systems. The new app features a more intuitive SleepScore™ that rates sleep ... well you slept. The SleepScore is created by a proprietary algorithm. Beddit analyzes the ...
(Date:11/25/2015)... MI (PRWEB) , ... November 25, 2015 , ... In ... Presence Resurrection Medical Center (RMC) in Chicago, IL, UV Angel is evaluating the efficacy ... medical and surgical intensive care units (totaling 30 beds) from May 2014 through October ...
(Date:11/25/2015)... ... , ... Today, Mothers Against Drunk Driving (MADD) learned that the ... the first time since 2011. In 2014, there were 9,967 fatalities involving an alcohol ... National Highway Traffic Safety Administration (NHTSA), 32,675 people were killed in traffic crashes in ...
(Date:11/25/2015)... Spring, Md (PRWEB) , ... November 25, 2015 ... ... Pulmonary Hypertension Association (PHA) announces the nation’s Periwinkle Pioneers, individuals and groups responsible ... history of this disease. The Periwinkle Pioneers, nominated by the public, will receive ...
Breaking Medicine News(10 mins):
(Date:11/25/2015)... -- Henry Schein, Inc., the world,s largest provider of health ... animal health practitioners, will unveil at the Greater New ... Pavilion , which brings together for the first time ... help any practice or laboratory enter the digital age. ... of experts appearing at the Pavilion. --> ...
(Date:11/25/2015)... -- Allergan plc (NYSE: AGN ), a ... start-up  biotechnology company focused on the development of ... by the F-Prime Biomedical Research Initiative (FBRI), today ... collaboration to support the discovery and development of ... Obsessive Compulsive disorders (OCD). ...
(Date:11/25/2015)... , Nov. 25, 2015 /PRNewswire/ ... "Company") (NYSE: MR ), a ... medical devices worldwide, today announced that ... general meeting of shareholders at the ... Grand Century, 193 Prince Edward West Road, ...
Breaking Medicine Technology: