According to a story from HudsonAlpha Institute for Biotechnology, a team of researchers affiliated with the organization have identified a genetic mutation that is linked a rare pediatric form of epilepsy called Dravet syndrome. The new finding could have significant implications for the treatment and diagnosis of this rare disease.
About Dravet Syndrome
Dravet syndrome is a form of severe epilepsy that usually begins by the sixth month of life. The disease is most characterized by frequent seizures that are sometimes triggered by fever or hot temperatures. In most cases, the syndrome is caused by mutations of the SCN1A gene. Most of the time, these mutations are not heritable and appear spontaneously. The predominant symptom of Dravet syndrome is seizures; varying types of seizures often occur as the disorder progresses, as well as ataxia, developmental delays, behavioral disorders that may resemble autism, and cognitive impairment. Seizures can be potentially lethal. Management strategies for Dravet syndrome may include a ketogenic diet, anticonvulsant medications, cognitive rehabilitation therapy, and cannabidiol. This rare disorder is estimated to appear anywhere from 1 in every 20,000 to 1 in every 40,000 births. To learn more about Dravet syndrome, click here.
It has long been known that Dravet syndrome is directly connected to mutations affecting the SCN1A gene. However, this new mutation is just one of what could be several more that can cause the disorder but have yet to be directly linked to it. The mutation was confirmed when the scientists conducted whole genome sequencing of a patient who displayed symptoms but had not been diagnosed. This mutation would not have been detected by most of the typical genetic tests administered by doctors.
After the finding, the researchers reached out to a number of partners about their discovery, who were soon able to find other cases that were linked to the mutation. Thankfully, the patient tested in the study appears to be doing relatively well as of today, and has not had to take any medications for seizures in over three years. The process used to find the mutation can be used by other researchers to uncover other mutations related to Dravet syndrome and other genetic disorders.
Check out the original study here.