In a research published in the advanced online publication of the scientific magazine Nature Genetics, researchers have identified a genetic defect for common epilepsies on chromosome 15.
A subset of the patients with epilepsy lacked a certain part of this chromosome. Further studies on patients from the USA confirmed this finding. The loss of small chromosomal segments, called microdeletions by geneticists, has previously not been connected with common disorders that also include many types of common epilepsies.
Dr. Ingo Helbig, University of Kiel and Department of Neuropediatrics at the University Medical Center Schleswig Holstein, Germany, is first author on this research study: “So far, we didn’t know that microdeletions, loss of entire chromosomal segments including several genes, can also be a cause for common diseases. This finding will help understand why people suffer from common disorders including epilepsies.”
Up to three percent of the population experience epileptic seizures and one percent suffers from epilepsy, which is characterised by recurrent seizures. The researchers hope that understanding how this genetic defect leads to epilepsy will help develop new drugs against seizures. So far, most genes for epilepsy were only found in rare form of epilepsies. However, hereditary factors are long known to play a much larger role, contributing to many common forms of seizure disorders. Hence, the discovery of the 15q13.3 microdeletions in common epilepsies is an important milestone.
44 coauthors contributed to the recent study, which was coordinated by Dr. Thomas Sander from the Cologne Center of Genomic at the University of Cologne, Germany. On a European level, this project included German groups from Berlin, Bonn, Marburg, Ulm as well as groups from Vienna, Copenhagen, Utrecht (NL), Geneva, Troina (Italy), Marseille and Nice. The research study was performed in collaboration with the group of Dr. Evan Eichler at the Department of Genome Sciences and Howard Hughes Medical Institute at the University of Washington, Seattle. Dr. Eichler is one of the pioneers of research on microdeletions in human disease.
Many authors on this research papers are part of the European EPICURE project of the European Union, a large consortium dedicated to the research of epilepsies.
Susanne Schuck | alfa
Zap! Graphene is bad news for bacteria
23.05.2017 | Rice University
Discovery of an alga's 'dictionary of genes' could lead to advances in biofuels, medicine
23.05.2017 | University of California - Los Angeles
An international team of physicists has monitored the scattering behaviour of electrons in a non-conducting material in real-time. Their insights could be beneficial for radiotherapy.
We can refer to electrons in non-conducting materials as ‘sluggish’. Typically, they remain fixed in a location, deep inside an atomic composite. It is hence...
Two-dimensional magnetic structures are regarded as a promising material for new types of data storage, since the magnetic properties of individual molecular building blocks can be investigated and modified. For the first time, researchers have now produced a wafer-thin ferrimagnet, in which molecules with different magnetic centers arrange themselves on a gold surface to form a checkerboard pattern. Scientists at the Swiss Nanoscience Institute at the University of Basel and the Paul Scherrer Institute published their findings in the journal Nature Communications.
Ferrimagnets are composed of two centers which are magnetized at different strengths and point in opposing directions. Two-dimensional, quasi-flat ferrimagnets...
An Australian-Chinese research team has created the world's thinnest hologram, paving the way towards the integration of 3D holography into everyday...
In the race to produce a quantum computer, a number of projects are seeking a way to create quantum bits -- or qubits -- that are stable, meaning they are not much affected by changes in their environment. This normally needs highly nonlinear non-dissipative elements capable of functioning at very low temperatures.
In pursuit of this goal, researchers at EPFL's Laboratory of Photonics and Quantum Measurements LPQM (STI/SB), have investigated a nonlinear graphene-based...
Dental plaque and the viscous brown slime in drainpipes are two familiar examples of bacterial biofilms. Removing such bacterial depositions from surfaces is...
23.05.2017 | Event News
22.05.2017 | Event News
17.05.2017 | Event News
23.05.2017 | Physics and Astronomy
23.05.2017 | Life Sciences
23.05.2017 | Medical Engineering