The past decade has accomplished much in the line of epileptic research. In fact, a mere 10 years ago, it was viewed as impossible to be able to decipher an individual’s genetic data in a period of weeks as a means of locating a specific genetic mutation that could be used to predict certain diseases. That scenario is not just science fiction anymore; the Human Genome Project used a plethora of sequencing robots to help sift through the entire genetic code in human beings as a means of churning out the DNA alphabet letter by letter.
Recently, Michael Hammer and his team of scientists from the University of Arizona applied Next Generation Genome Sequencing to decipher the entire DNA from one person who died from a sudden and unexplainable epileptic event. This research is significant in that the scientists didn’t just find out what caused the death, they have also been able to give the patient’s family peace by finding a diagnosis.
The data have been published in the American Journal of Human Genetics. The researchers found that the cause of the sudden epileptic death was “an unknown mutation in a gene coding for a sodium channel protein in the central nervous system.”
“If you have a small child with severe epilepsy, not knowing what is causing it is a big burden to carry for the family,” said Michael Hammer, an associate professor in the UA’s department of ecology and evolutionary biology and a research scientist at the UA’s Arizona Research Labs. “It leaves a lot of open questions and sometimes even feelings of guilt.”
In the case of this death, the patient did not inherit the epilepsy from her parents as the family didn’t have a family history of the condition. Because of this fact, the team thought that the condition may have been caused by a de novo mutation, which is viewed as a sort of “typo” in the genetic alphabet that occurs on its own.
“We were tasked with the search for the proverbial needle in a haystack,” said a postdoctoral fellow in Hammer’s lab. “To find a de novo mutation, we have to comb through the entire genome. In the old days, we could have generated a list of candidate genes and sequenced them one gene at a time. Unfortunately, that’s a lot of work, especially in the brain where you have thousands of genes that could potentially be involved in a process leading to a neurological disorder.”
Epilepsy is a serious condition that causes patients to develop various degrees of seizures and other symptoms. The condition is often treated with various medication like Topamax. Studies have shown that Topamax — when taken during pregnancy — can cause babies to be born with serious birth defects, including PPHN, cleft palate, neural tube defects and heart, lung and brain defects. If your baby was born with birth defects after being exposed to Topamax, contact Greg Jones today for a free consultation. I am experienced at fighting Topamax lawsuits and may be able to get you compensated for your baby’s injuries.
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