Flemish researchers find genetic cause of febrile seizures
Through tests on fish, researchers in Antwerp and Leuven have discovered a gene mutation that causes epileptic seizures and fits
International collaboration
Febrile seizures are the most frequent form of childhood epileptic fits and affect about 2 to 4% of all children aged up to three worldwide. The seizures, which can be frightening to witness but are not dangerous, normally disappear by the time the child is about four.
In rare cases, such as in people with Dravet Syndrome, the seizures develop into epileptic attacks. Most people with this kind of disorder also suffer from intellectual disabilities. It was already known that this type of disorder had hereditary causes. Now, through international collaboration, researchers have found a new genetic reason: mutations of the gene known as STX1B.
The mutations in this gene disrupt the regulation of certain neurotransmitters, chemicals that are essential for the communication of signals in our brain. This results in uncontrolled electrical releases, which cause epileptic fits when the body temperature increases abnormally quickly due to fever.
Antwerp expertise
The mutations were first discovered when scientists examined the genetic material of family members who suffer from this kind of disorder. Later analysis carried out among an extensive group of patients, in which the NeuroGenetics Group at UA was involved, uncovered additional mutations. The Antwerp experts were part of the European consortium EuroEPINOMICS.
The genetic mechanisms of zebrafish are very similar to those of humans
However, the first statistical findings had to be confirmed through tests on animals. For this purpose, the international team called on the expertise of the Lab for Molecular Biodiscovery at KU Leuven, which specialises in genetic research on epilepsy, using zebrafish as test animals.
“The genetic mechanisms of zebrafish are very similar to those of humans, and we can manipulate them relatively easily,” explains professor Peter de Witte, head of the lab. He says tests on the fish offer much faster results than experiments on mice and are also more ethical.
Scientists at Leuven found a clear change in the brainwaves of the zebrafish in which they created a mutation of the STX1B gene, a finding in line with the statistical data. De Witte, however, stresses that more research is necessary. The zebrafish can also be useful in the search for new treatments for febrile seizures and fever-associated epilepsy.
In January, the lab at Leuven and the NeuroGenetics Group will team up to explore more possible genetic causes for this type of disorder. Their collaborative project is supported by the Flemish Fund for Scientific Research for four years.
Photo: IngImage
