An international research team has been able to identify gene mutations involved with causing severe forms of childhood epilepsy. They used a method called family- based exome sequencing. This method looks at the part of the human genome that carries blueprints for proteins. The researchers looked at the sequence information of the children and compared that to the parents. They were then able to identify de novo change in children's genomes. They hoped that these genes will tell researchers more about underlying disease mechanisms and how to address them with treatment.
Researchers say the most surprising finding is a gene called DNM1. DNM1 codes for dynamin-1 a structural protein that plays a role in communication between the body of the neuron and the synapse. The mutated DNM1 was found in five of the affected epileptic patients. Many of the mutated genes found to be connected to epilepsy were related to the function of the synapse.
This research looks to be a positive step in identifying causes in certain types of childhood epilepsy. hopefully the knowledge gained through this study can help identify a treatment for this devastating disease in children. The communication between the research teams were also successful and because of their good communication a lot was able to be accomplished.
Article:http://www.sciencedaily.com/releases/2014/09/140925130508.htm
related Article:http://epilepsygenetics.net
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