Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Researchers identify new childhood-onset epilepsy disorder and its genetic cause

30.03.2006
Finding may also shed light on cause of autism
Researchers from the Translational Genomics Research Institute (TGen) and the Clinic for Special Children (CSC) in Strasburg, PA, have described a new childhood-onset disorder characterized by severe epilepsy and autistic traits, and identified its genetic basis.

Epilepsies are a biologically complex group of disorders comprising many discrete genetic entities, and the majority of recurrent seizure syndromes remain unexplained. Most, if not all, epileptic disorders can be traced to abnormalities of brain structure or chemistry that alter the electrical activity of nerve cell networks. The children in this study have autistic traits, also thought to be caused by disrupted nerve cell networks.

The finding, which is published in the March 30th issue of the New England Journal of Medicine, describes the newly discovered disorder called cortical dysplasia-focal epilepsy syndrome (CDFE) in a group of closely related Old Order Amish children from Pennsylvania.

All affected children had relatively normal development until the onset of frequent intractable seizures in early childhood. Thereafter, they developed language regression and additional features of autism, possibly implicating this gene as a cause of autism in the general population. Physicians at the CSC isolated DNA from four of the affected children and their six parents and, in collaboration with TGen, identified a mutation in the gene that codes for a protein called CASPR2.

New GeneChip technologies for scanning the human genetic blueprint are powerful tools for rapidly identifying causes of disorders such as epilepsy in carefully selected families.

"The ability to rapidly decipher the genetic underpinnings of brain disorders through genetic technologies will allow the medical community to better understand disorders such as autism and epilepsy, and this understanding is the first step in developing effective treatments" said Dr. Dietrich Stephan, Director of the Neurogenomics Division at TGen, Scientific Director of the TGen/Southwest Autism Research and Resource Center’s (SARRC) autism research program, and a senior author on the study.

The protein has a well-known role in maintaining physical contacts between neurons and neighboring glial cells in the mature nervous system, but this is the first evidence that CASPR2 is also important for early human brain development.

According to Dr. Erik Puffenberger, laboratory director at the CSC, "We were able to unequivocally map the disease gene to chromosome 7 and identify a pathogenic sequence variant in the gene CNTNAP2, which codes for the CASPR2 protein. Although these patients were from an isolated population, we anticipate that CASPR2 mutations will be found in children from other populations with mental retardation, seizures, and autism."

"Previous studies on CASPR2 in isolated cell cultures and genetic ’knockout’ mice did not predict its fundamental role in human brain development or cortical electrical activity. The present findings are compelling evidence for such roles, and open new directions for epilepsy and autism research beyond the index population," said Dr. Kevin Strauss, a pediatrician at the CSC.

According to Dr. Holmes Morton, co-founder and medical director of the CSC, "The identification of the mutation in CASPR2 in our Amish patients has already allowed us to recognize affected newborns before they become symptomatic. Our hope is that early treatment and prevention of prolonged seizures in these infants will lessen the effects of the disorder upon the lives of children and their families."

Amy Erickson | EurekAlert!
Further information:
http://www.tgen.org

More articles from Life Sciences:

nachricht Flow of cerebrospinal fluid regulates neural stem cell division
21.05.2018 | Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt

nachricht Chemists at FAU successfully demonstrate imine hydrogenation with inexpensive main group metal
21.05.2018 | Friedrich-Alexander-Universität Erlangen-Nürnberg

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Explanation for puzzling quantum oscillations has been found

So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics

Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...

Im Focus: Dozens of binaries from Milky Way's globular clusters could be detectable by LISA

Next-generation gravitational wave detector in space will complement LIGO on Earth

The historic first detection of gravitational waves from colliding black holes far outside our galaxy opened a new window to understanding the universe. A...

Im Focus: Entangled atoms shine in unison

A team led by Austrian experimental physicist Rainer Blatt has succeeded in characterizing the quantum entanglement of two spatially separated atoms by observing their light emission. This fundamental demonstration could lead to the development of highly sensitive optical gradiometers for the precise measurement of the gravitational field or the earth's magnetic field.

The age of quantum technology has long been heralded. Decades of research into the quantum world have led to the development of methods that make it possible...

Im Focus: Computer-Designed Customized Regenerative Heart Valves

Cardiovascular tissue engineering aims to treat heart disease with prostheses that grow and regenerate. Now, researchers from the University of Zurich, the Technical University Eindhoven and the Charité Berlin have successfully implanted regenerative heart valves, designed with the aid of computer simulations, into sheep for the first time.

Producing living tissue or organs based on human cells is one of the main research fields in regenerative medicine. Tissue engineering, which involves growing...

Im Focus: Light-induced superconductivity under high pressure

A team of scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg investigated optically-induced superconductivity in the alkali-doped fulleride K3C60under high external pressures. This study allowed, on one hand, to uniquely assess the nature of the transient state as a superconducting phase. In addition, it unveiled the possibility to induce superconductivity in K3C60 at temperatures far above the -170 degrees Celsius hypothesized previously, and rather all the way to room temperature. The paper by Cantaluppi et al has been published in Nature Physics.

Unlike ordinary metals, superconductors have the unique capability of transporting electrical currents without any loss. Nowadays, their technological...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Save the date: Forum European Neuroscience – 07-11 July 2018 in Berlin, Germany

02.05.2018 | Event News

Invitation to the upcoming "Current Topics in Bioinformatics: Big Data in Genomics and Medicine"

13.04.2018 | Event News

Unique scope of UV LED technologies and applications presented in Berlin: ICULTA-2018

12.04.2018 | Event News

 
Latest News

Supersonic waves may help electronics beat the heat

18.05.2018 | Power and Electrical Engineering

Keeping a Close Eye on Ice Loss

18.05.2018 | Information Technology

CrowdWater: An App for Flood Research

18.05.2018 | Information Technology

VideoLinks
Science & Research
Overview of more VideoLinks >>>