According to University Department of Neurology at the MedUni Vienna researchers, a genetic defect has been newly detected that may actually trigger epilepsy. The report was published in the journal Brain.
The significance of the find is that it may be able to help researchers better create earlier prediction methods in younger patients as well as help scientists develop better methods of treating the condition. Researchers are calling the ability to identify the gene “next generation sequencing,” which is meant to help identify the genetic changes faster to provide a quicker diagnosis of epilepsy. The gene that is defective is called the CNTN2, which is defective in this type of epilepsy.
The research was led by Elisabeth Stögmann, says a clue came from “a particular Egyptian family, in which five sick children have resulted from the marriage of one healthy cousin to his, likewise healthy, second cousin. The children affected suffer from a specific epilepsy syndrome, in which different types of epileptic attacks occur. This constellation has the advantage that both alleles of the gene, which is how one designates different forms of the gene, demonstrate this defect. As a result the defect becomes symptomatic and identifiable.
“20,000 to 25,000 genes, including all the ‘protein coding’ ones, were sequenced for this,” she continues. “When this was done, a mutation was found in the CNTN2 gene. CNTN2 undertakes an important function in the anchoring of potassium channels to the synapses. The mutation makes it no longer possible to generate this protein and, as a consequence, the potassium channels no longer remain affixed to the synapses. The researchers suspect that the epilepsy in this family is triggered by the altered function of the potassium channels.”
Researchers have long been looking for a genetic link to epilepsy that will finally help them to predict the condition’s likelihood and develop better and safer drugs to combat the onset of seizures. One of the drugs used to prevent seizures is Topamax. Topamax has been linked to serious side effects including birth defects in babies whose mothers take the drugs while pregnant. Children may be born with birth defects such as PPHN, spina bifida, neural tube defects, oral clefts and heart, lung and brain defects after exposure to Topamax in-utero.
If your baby was born with birth defects after in-utero exposure to Topamax, contact attorney Greg Jones today for a free consultation. I am experienced at fighting Topamax lawsuits and may be able to help you recover money for your child’s injuries.
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