Wednesday, November 26, 2014

Epilepsy and Genes


Research teams at Scripps translational science institute has found a new genetic cause of a rare epilepsy that begins in early childhood. After sequencing an entire genome the researchers located a mutation in the KCNB1 gene after using a 10 year old girl from San Diego who has this rare form of epilepsy.





The KCNB1 regulates the flow of potassium ions through neurons, this affects how the cells communicate with one another. The finding of this has allowed new treatment options for children with a case of epilepsy encephalpathy. The research team allowed for this girl to improve drastically, from her almost seizing 25 times a day to less now. The scientists believe that with this finding she will only keep improving in time.

I think this finding is amazing. It could help childrens lives completely, from seizing many times a day and not being able to living their lives to being able to have an almost funtional normal life. If the treatments keep increasing because of the findings, I think that this could help the children that have this rare form of epilepsy.


2 comments:

  1. After reading this post, it was interesting to find out that epilepsy can start from an early age. I always associated that epilepsy occurred in young adults or adults. Since epilepsy is cause by regulation in brain signaling or communication. It was interesting that this rare epilepsy condition is caused by a mutation in the KCNB1 gene. This cause deregulation of the flow of potassium ions through the neurons. Since the neuron signaling is unaffected, it is likely to cause the seizure symptoms.

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