Genetics and mathematical modeling point to what goes wrong in epilepsy

Using an innovative technique combining genetic analysis and mathematical modeling with some basic sleuthing, researchers have identified previously undescribed microlesions 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.

In its first clinical application in pediatric patients, an investigational medication developed and manufactured at UC Davis has been found to effectively treat children with life-threatening and difficult-to-control epileptic seizures without side effects, according to a research report by scientists at UC Davis and Northwestern University.

The investigational formulation of allopregnanolone was manufactured by UC Davis Health System's Good Manufacturing Practice Laboratory. Two children were treated with the allopregnanolone formulation, one at UC Davis Children’s Hospital, the other at the Ann & Robert Lurie Children’s Hospital in Chicago. Both children were weaned from general anesthetics and other seizure treatments and their seizures resolved. In both instances the children are recovering.

Breakthrough in detecting early onset of refractory epilepsy in children will lead to effective treatment using non-pharmacological therapies.

65 MILLION people around the world today suffer from epilepsy, a condition of the brain that may trigger an uncontrollable seizure at any time, often for no known reason. A seizure is a disruption of the electrical communication between neurons, and someone is said to have epilepsy if they experience two or more unprovoked seizures separated by at least 24 hours.

A new study provides the most definitive characterization of the autism-like intellectual disability disorder Christianson syndrome and provides the first diagnostic criteria to help doctors and families identify and understand the condition. Initial evidence suggests CS could affect tens of thousands of boys worldwide.

Because the severe autism-like condition Christianson syndrome was first reported only in 1999 and some symptoms take more than a decade to appear, families and doctors urgently need fundamental information about it. A new study that doubles the number of cases now documented in the scientific literature provides the most definitive characterization of CS to date. The authors of the study propose the first diagnostic criteria for the condition. “We’re hoping that clinicians will use these criteria and that there will be more awareness among clinicians and the community about Christianson syndrome,” said Dr. Eric Morrow, assistant professor of biology and psychiatry and human behavior at Brown University and senior author of the study in press in Annals of Neurology. “We’re also hoping this study will impart an opportunity for families to predict what to expect for their child and what’s a part of the syndrome.”
Posted by New York Times

The technique has provided the clearest picture yet of how neural circuits function, and raised hopes of new therapies for depression and anxiety as well as cognitive problems.

The Department of Defense on Tuesday announced a $40 million investment in what has become the fastest-moving branch of neuroscience: direct brain recording. Two centers, one at the University of Pennsylvania and the other at the University of California, Los Angeles, won contracts to develop brain implants for memory deficits. Their aim is to develop new treatments for traumatic brain injury, the signature wound of the wars in Iraq and in Afghanistan. Its most devastating symptom is the blunting of memory and reasoning. Scientists have found in preliminary studies that they can sharpen some kinds of memory by directly recording, and stimulating, circuits deep in the brain. Unlike brain imaging, direct brain recording allows scientists to conduct experiments while listening to the brain’s internal dialogue in real time, using epilepsy patients like Ralph or people with Parkinson’s disease as active collaborators.