Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Researchers identify gene linked with early epilepsy

11.03.2015

Treatment may help prevent poor brain development in some cases

Certain types of early-onset epilepsy are caused by previously unknown mutations of a potassium channel gene, KCNA2. The mutations disrupt the electrical balance in the brain in two ways. In some patients, the flow of potassium is greatly reduced; while in others, it is raised enormously.

Both states can lead to hard-to-treat epileptic seizures. Mental and motor development can come to a stop, or even to regress. These findings were made by a group of European scientists led by researchers at the Universities of Leipzig and Tübingen. Their results are published in the latest Nature Genetics.

Among the things the brain needs in order to function is the interaction of many different ion channels, which regulate electrical signals by keeping a delicate balance between the influences which make cells rest or become excited. The ion channels are located in the cell wall of a neuron, together with many other pores and channels.

“The potassium channel KCNA2 is one of many channels. It regulates the flow of potassium ions by opening and shutting, thereby also regulating the electrical excitability of the neurons in the brain,” explains Professor Johannes Lemke, head of Leipzig University Hospitals’ Institute of Human Genetics. Mutations in various ion channels are one of the main causes of epilepsy.

“That is why identifying each mutation in the ion channel is important for diagnosing the individual epilepsy syndrome and finding ways of treating it,” says Professor Holger Lerche, of Tübingen’s Hertie Institute for Clinical Brain Research (HIH) and medical director of Neurology and Epileptology at the Tübingen University Hospitals.

The researchers discovered that the mutations disrupt the ion channel’s function either by cutting the flow of potassium, leading to a loss of function; or by increasing potassium flow, leading to an excess gain of function. Patients demonstrating a loss of function had their first epileptic seizures starting at the age of around one, but the attacks ceased during childhood or in the patient’s teenage years.

For patients with increased function, however, epileptic seizures began even earlier and recurred into adulthood. The degree of mental disability and related problems was greater in the latter group. The types of early-childhood-onset epilepsy caused by potassium ion channel mutations comprise a field of study all their own within epileptic encephalopathy, the severe epilepsies which start early in life and which are linked with various degrees of developmental disruptions, reduced intelligence and other neuropsychiatric symptoms such as autism and disruptions to voluntary muscle coordination (ataxia).

For patients whose potassium flows are too high, there is an immediate treatment option in the form of 4-aminopyridine, an approved drug which specifically blocks the relevant ion channel. This treatment is to be applied. The researchers and doctors hope it will lead to a reduction of seizures and improve mental abilities. However, it is not expected that the treatment can correct severe mental retardation due to faulty neural networks or deformed neurons caused during the development of the brain.

For this reason, it is important to identify the genetic defects as early as possible in the brain - so as to prevent developmental retardation as far as possible. As to the patients with a loss of function in their potassium flows, the researchers aim to conduct further experiments into exactly how the epileptic seizures arise - so as to find new ways of treating the disorder. Then they would be able to improve the lot of a small proportion of patients with epileptic ecephalopathy with improved and individualized therapies.

Publication
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy), Nature Genetics (2015) doi:10.1038/ng.3239; Published online 09 March 2015; http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3239.html

Silke Jakobi | idw - Informationsdienst Wissenschaft
Further information:
http://www.hih-tuebingen.de

More articles from Health and Medicine:

nachricht Spanish scientists create a 3-D bioprinter to print human skin
24.01.2017 | Carlos III University of Madrid

nachricht Tracking movement of immune cells identifies key first steps in inflammatory arthritis
23.01.2017 | Massachusetts General Hospital

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

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

Im Focus: Scientists spin artificial silk from whey protein

X-ray study throws light on key process for production

A Swedish-German team of researchers has cleared up a key process for the artificial production of silk. With the help of the intense X-rays from DESY's...

Im Focus: Quantum optical sensor for the first time tested in space – with a laser system from Berlin

For the first time ever, a cloud of ultra-cold atoms has been successfully created in space on board of a sounding rocket. The MAIUS mission demonstrates that quantum optical sensors can be operated even in harsh environments like space – a prerequi-site for finding answers to the most challenging questions of fundamental physics and an important innovation driver for everyday applications.

According to Albert Einstein's Equivalence Principle, all bodies are accelerated at the same rate by the Earth's gravity, regardless of their properties. This...

Im Focus: Traffic jam in empty space

New success for Konstanz physicists in studying the quantum vacuum

An important step towards a completely new experimental access to quantum physics has been made at University of Konstanz. The team of scientists headed by...

Im Focus: How gut bacteria can make us ill

HZI researchers decipher infection mechanisms of Yersinia and immune responses of the host

Yersiniae cause severe intestinal infections. Studies using Yersinia pseudotuberculosis as a model organism aim to elucidate the infection mechanisms of these...

Im Focus: Interfacial Superconductivity: Magnetic and superconducting order revealed simultaneously

Researchers from the University of Hamburg in Germany, in collaboration with colleagues from the University of Aarhus in Denmark, have synthesized a new superconducting material by growing a few layers of an antiferromagnetic transition-metal chalcogenide on a bismuth-based topological insulator, both being non-superconducting materials.

While superconductivity and magnetism are generally believed to be mutually exclusive, surprisingly, in this new material, superconducting correlations...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Sustainable Water use in Agriculture in Eastern Europe and Central Asia

19.01.2017 | Event News

12V, 48V, high-voltage – trends in E/E automotive architecture

10.01.2017 | Event News

2nd Conference on Non-Textual Information on 10 and 11 May 2017 in Hannover

09.01.2017 | Event News

 
Latest News

Breaking the optical bandwidth record of stable pulsed lasers

24.01.2017 | Physics and Astronomy

Choreographing the microRNA-target dance

24.01.2017 | Life Sciences

Spanish scientists create a 3-D bioprinter to print human skin

24.01.2017 | Health and Medicine

VideoLinks
B2B-VideoLinks
More VideoLinks >>>