Dravet Syndrome

 

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Random blog day boo yah. As you should know Fridays is random blog day were we talk anything and everything and pretty much run with it. Today's blog is on Dravet Syndrome.

Dravet Syndrome (DS) once known as Severe Myoclonic Epilepsy of Infancy (SMEI) is an autosomal dominant genetic disorder which causes a form of Epilepsy that can be rather catastrophic, with prolonged seizures which are often triggered by either hot temperatures or fever. Unfortunately Its rather difficult to treat especially with anticonvulsant medications. DS usually begins before the age of 1, with 6 months usually being the age that the seizures usually being, especially since they are characterized by prolonged convulsions and triggered by fever.

The most common form of DS is Epilepsy. DS is usually diagnosed clinically and genetic testing is recommended whenever there is doubt. Due in part to drug-refractory Epilepsy in DS, Many other therapies are being explored to prolong patients life expectancies.

In most cases the mutations in Dravet Syndrome are not hereditary and the mutated gene is usually sound in a single family member. IN 70-90% of Patients, DS is caused by nonsense mutations in the SCN1A gene often resulting in a non-functional protein.

Thanks to some mouse models, loss of function mutations have been observed resulting in a decrease in sodium currents and impaired excitability of GABAergic, interneurons of the hippocampus, researchers found the loss in Nav1.1 channels was sufficient to be a cause of epilepsy AND death seen in DS sufferers.

The timing of the first signs and symptoms in DS usually occur around the same time as the normal rounds of Childhood vaccinations, leading for some to believe that the vaccine was the cause of DS. However this is likely to be a non-specific response to fever as vaccinations often induce fever, which often leads to seizures in people with DS. Some people who put forwards vaccine injury claims from Encephalopathy were usually found to have DS upon testing.

I have put some links into the bibliography down below for more information on Dravet Syndrome.

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THE WEBSITE BIBLIOGRAPHY:

https://en.wikipedia.org/wiki/Dravet_syndrome

https://www.dravet.org.uk/

https://www.epilepsy.com/what-is-epilepsy/syndromes/dravet-syndrome

https://www.ninds.nih.gov/health-information/disorders/dravet-syndrome

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