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Scientists uncover how rare gene mutation affects brain development and memory

Researchers from the University of California, Irvine School of Medicine, have found that a rare gene mutation alters brain development in mice, impairing memory and disrupting the communication between nerve cells. They also show memory problems could be improved by transplanting a specific type of nerve cell into the brain. The findings were published today in Neuron.   “Mutations in hundreds of genes have been linked to neurodevelopmental disorders, many of which have devastating behavioral consequences that cannot be managed with available treatment options,” explained Robert Hunt, Ph.D., assistant professor of Anatomy & Neurobiology, who led the study with Young Kim, Ph.D., a postdoctoral fellow. “Now, a major challenge in the field is to identify the underl...

New causative gene found in severe childhood epilepsy

A large international research team has discovered a new genetic cause for a severe, difficult-to-treat childhood epilepsy syndrome. Spontaneous mutations in one gene disrupt the flow of calcium in brain cells, resulting in epileptic overactivity. The team’s research in patients also found clues to potential medical treatments for the rare condition. “Even though variants in this gene were only just discovered to cause disease, we already have a good understanding of how changes in the gene’s associated protein affect brain function—causing neural overactivity in epilepsy,” said first author Katherine L. Helbig, MS, CGC, a research genetic counselor in the Neurogenetics Program in the Division of Neurology at Children’s Hospital of Philadelphia (CHOP). “...

Epilepsy in Children

Epilepsy is the most common neurological disorder affecting children, and may be characterized by sudden, recurrent episodes of uncontrolled motor activity and, in some cases, impaired consciousness (seizures). Any condition that triggers disruptive electrical discharges in the brain can produce epilepsy. Although the underlying abnormality may not be correctable, seizures themselves can usually be controlled through drug therapy. There are a number of relatively benign genetic epilepsies of childhood, some but not all of which may be outgrown. Common Causes of Epilepsy Seizures may develop as a result of a head injury, brain infection, brain tumor, drug or alcohol withdrawal or intoxication, stroke, birth trauma or metabolic imbalance. In most cases, the underlying cause of a child’s epil...

Epilepsy – Signs and Symptoms You Must Know!

Epilepsy is a disorder in the central nervous system characterized by recurrent seizures. An unexpected rush of electrical activity inside the brain leads to a seizure. Brain activity becomes abnormal and leads to periods of unusual behaviour with loss of awareness at times. Seizures do not always include unusual muscle movements or convulsions. Untreated seizures can seriously affect the lives of children having them. Epilepsy affects both men and women regardless of their ethnic background and age. Signs of Epilepsy: A staring spell Momentary bewilderment Loss of consciousness Jerking movements of arms and legs. Panic or anxiety Kinds of Seizures: Seizures are normally classified as focal or generalized depending on the commencement of abnormal brain activity. Focal (partial) seizures re...

Understanding Epilepsy

The brain comprises nerves and nervous tissue. It sends signals through the nerves and the spinal cord to every part of the body using electrical impulses. In epilepsy, there is a surge of electrical activity in different parts of the body. This leads to a variety of symptoms, usually a seizure, but can be as inconspicuous as a loss of attention during an activity. About 65 million people worldwide have epilepsy. Anyone can develop epilepsy as it affects both males and females of all races, ethnic backgrounds and ages. But most common in the following people: • Males. • Children under two. • The elderly. • People with a family history of epilepsy. • People who had seizures as children. • People who have had a stroke. Epilepsy. Photo: Epilepsy Queensland Epilepsy is NOT contagious. When you...

Epilepsy: New findings ‘could change textbooks’

New research finds that two key brain proteins are involved in the neuronal misfiring that characterizes epilepsy. The findings “could potentially change textbooks” on epilepsy, according to the researchers, as well as pave the way for new therapies. The World Health Organization (WHO) estimate that 50 million people worldwide have epilepsy, making it one of the most widespread neurological conditions in the world. In the United States, 3.4 million people — or 1.2 percent of the population — live with the condition.

How does epilepsy affect the brain and nervous system?

The brain and central nervous system Epilepsy is typically associated with symptoms of seizure. As such, the primary area that the condition affects is the central nervous system. The brain acts as the central hub in the body. Here, all voluntary and involuntary movements are controlled. Normally, electrical activity runs through the body’s nerve cells and assists the brain is sending messages or telling the body how to behave, react or move. Where there is a dysfunction, abnormal signals disrupt this process and cause distress. This brings on seizures:   Generalized seizures: This type involves both sides of the brain and results in loss of consciousness. A person may experience absence seizures or petit mal seizures (lasting about half a minute or less) which cause blank staring (ab...

What Modern Day Challenges Affect Epilepsy Treatment?

Researchers recently published an article in The Lancet Neurology discussing the difficulties facing seizure detection in patients with epilepsy.   Epilepsy is a neurological disorder that is characterised by short repetitive epileptic seizures. These seizures can be harmful to the individual depending on the circumstances in which they occur, such as a seizure while driving. This disorder is set apart from other neurological disorders since there is a broad range of different physiological changes that can cause it, leading to a large variation in symptoms and making it difficult to treat. While 70% of sufferers can be treated with pharmacological agents, 30% have no reliable anti-epileptic drugs that are effective for their particular type of epilepsy.

Epilepsy tied to severe hypoglycemia in type 2 diabetes

Adults with type 2 diabetes have an increased risk for epilepsy, especially in the presence of severe hypoglycemia, compared with adults without type 2 diabetes, according to findings published in Diabetes Research & Clinical Practice.   Chung-Yi Lu, PhD, professor in the department and graduate Institute of Public Health at the College of Medicine, National Cheng Kung University in Taiwan, and colleagues evaluated data from Taiwan’s National Health Insurance claims on 751,792 adults with type 2 diabetes (mean age, 59.51 years; 51% women) and 824,253 matched controls (mean age, 59.47 years; 51% women) identified between 2002 and 2003 to determine the potential link between type 2 diabetes and epilepsy and the role that severe hypoglycemia may play in the relationship. Participants...

What to know about complex partial seizures

A complex partial seizure is a type of seizure that arises in one lobe of the brain, rather than the whole brain. The seizure affects people’s awareness and may cause them to lose consciousness.   Complex partial seizures are now more commonly referred to as focal onset impaired awareness seizures or focal impaired awareness seizures.

Over 1/3 of New Cases of Epilepsy are Treatment Refractory

More than one-third of patients with newly diagnosed epilepsy do not respond to treatment with antiepileptic drugs (AEDs), according to a study published online in JAMA Neurology. Zhibin Chen, PhD, from the University of Melbourne in Australia, and colleagues conducted a longitudinal observational cohort study to assess long-term outcomes in 1795 patients with newly diagnosed and treated epilepsy. Patients were followed for a minimum of 2 years or until death.

How to deal with epilepsy

Epilepsy is a condition where the nerve cell activity in the brain is disturbed.  Epilepsy is a disorder in which nerve cell activity in the brain is disturbed, causing seizures or periods of unusual behavior, sensations and sometimes loss of consciousness.  People with epilepsy behave differently. Some simply stare blankly for a few seconds during a seizure, while others repeatedly twitch their arms or legs.  You need to have two unprovoked seizures to be diagnosed with epilepsy. All seizures need to be treated because they can be dangerous during activities such as driving or swimming.