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Genetic Causes

Researchers move closer to solving puzzle of 15q13.3 microdeletion syndrome

Researchers are closer to solving the puzzle of a complex neurological condition called 15q13.3 microdeletion syndrome. Individuals with this condition are missing a small piece of chromosome 15 that usually contains six genes, but which one of the genes is responsible for the clinical characteristics of patients has not been clear. In this study, a multidisciplinary team of researchers at Baylor College of Medicine and Texas Children’s Hospital has identified in a mouse model OTUD7A as the gene within the deleted region that accounts for many characteristics of the human condition. The researchers also discovered that mice deficient in the gene Otud7a have fewer dendritic spines, small protrusions involved in neuron communication, which might be related to the neurological deficits. The r...

‘Microlesions’ in Epilepsy Discovered by Novel Technique

Chicago, IL (Scicasts) — Using an innovative technique combining genetic analysis and mathematical modeling with some basic sleuthing, researchers have identified previously un-described micro-lesions in brain tissue from epileptic patients. The millimeter-sized abnormalities may explain why areas of the brain that appear normal can produce severe seizures in many children and adults with epilepsy. The findings, by researchers at the University of Illinois at Chicago College of Medicine, Wayne State University and Montana State University, are reported in the journal Brain. Epilepsy affects about 1 percent of people worldwide. Its hallmark is unpredictable seizures that occur when groups of neurons in the brain abnormally fire in unison. Sometimes epilepsy can be traced back to visible abn...

​BREAKTHROUGH: Cure for migraines and epilepsy? Humans control genes in mice with power of thought

Scientists have constructed a device which enables human brainwaves to turn genes in mice on and off, suggesting potential ways of treating epilepsy, migraines, and pain management according to new research. The mind-controlled tool connects a wireless brainwave monitoring headset to an implant in the mouse. The study, published in Nature Communications, a multidisciplinary natural sciences journal, suggests that genes can be regulated by human thought. The implant, consisting of a tiny capsule filled with human cells, modified to be sensitive to light, and an LED light, was inserted under the mouse’s skin. Human brainwaves acted on the LED, which, in turn, modified the implanted gene. Human volunteers, divided into three groups, were asked to mediate, play a game of Minecraft, or watch th...

Severe Forms Of Childhood Epilepsy Caused By Gene Mutations

Via Medical Daily Scientists have uncovered synapse genes with major roles in severe childhood epilepsy. Watching your child undergo bouts of epileptic seizures can be painful and frightening. While a majority of kids outgrow epileptic seizures by the time they hit their teens, there are some who suffer from severe forms that can be life-threatening. Now new research has opened doors for a more targeted approach for treating epilepsy by identifying gene mutations that disrupt functioning of the synapses in the brain, causing severe, difficult-to-treat forms of childhood epilepsy.


In a recent mouse-model study at The University of Texas MD Anderson Cancer Center researchers found that Mice who have partial deficiency of a certain gene were more likely to develop seizures, and suffer sudden death. — Mice who have partial deficiency of gene SENP2 are more likely to develop seizures, sudden death A gene crucial for brain and heart development may also be associated with sudden unexplained death in epilepsy (SUDEP), the most common cause of early mortality in epilepsy patients.


Melbourne researchers say they have identified the genetic causes of the most common types of epilepsy, bringing them one step closer to finding a cure for the condition. Epilepsy is a neurological condition that causes recurrent seizures and affects about 2% of people globally A total of 8,000 people in Australia, Asia, North America and Europe were screened using new technology to provide them with a large enough sample to identify the two recurring genes. The head of medicine at the Royal Melbourne Hospital and the University of Melbourne, Professor Terry O’Brien, was involved in the Australian arm of the study. He told AM the study was a significant breakthrough for genetic generalized epilepsies. “What we discovered is that there are two genes that seem to be particularly ...

Early Diagnosing Hereditary Illness With an Android App

In the case of a cough or a sore throat, the doctor can usually diagnose a common cold immediately. However, the diagnosis of hereditary illnesses like cystic fibrosis, which affects the metabolism, or Huntington’s disease, which leads to cognitive decline, is much more complex. A patient may suffer from a multitude of symptoms, pointing to several different diseases. This can now be remediated using a program developed by bioinformatics experts from Saarbrücken, which is now also available as an app. With the aid of this application, physicians can discover patients’ afflictions quickly and without great research effort. The computing method that the program is based on compares different patterns of hereditary diseases from an extensive online database and weights them by the...

Study reveals novel epilepsy pathway linked to neurodegenerative diseases

New epilepsy pathway was previously shown to be involved in Alzheimer’s A recent scientific discovery showed that mutations in prickle genes cause epilepsy, which in humans is a brain disorder characterized by repeated seizures over time. However, the mechanism responsible for generating prickle-associated seizures was unknown. A new University of Iowa study, published online July 14 in the Proceedings of the National Academy of Sciences, reveals a novel pathway in the pathophysiology of epilepsy. UI researchers have identified the basic cellular mechanism that goes awry in prickle mutant flies, leading to the epilepsy-like seizures. “This is to our knowledge the first direct genetic evidence demonstrating that mutations in the fly version of a known human epilepsy gene produce...

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