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Which genes cause Dravet Syndrome?
Read more about how 85% of people with a diagnosis of Dravet Syndrome have a change (mutation) in the gene known as SCN1A.
Dravet Syndrome occurs when one of the genes in a part of the brain, known as the ‘sodium ion channel’, doesn’t function as it should. The movement of sodium ions in and out of nerve cells helps to control electrical messages in the brain.
So, a faulty ion channel gene can cause seizures and the spectrum of conditions that we see affecting people with Dravet Syndrome.
Find out more about the genes that can cause Dravet Syndrome here.
We know some families worry that they are somehow responsible for their child’s genetic condition. However, in around 90% of cases, the Dravet gene mutation is ‘de novo’, which means it happens spontaneously and is not inherited from parents.
Dravet Syndrome is diagnosed clinically, from reported signs and symptoms, including:
A genetic test for Dravet Syndrome is also available free of charge via the NHS in the UK. Although Dravet Syndrome can be diagnosed without genetic testing, it can be very helpful to get this done. This is because genes have an important role to play in our understanding and management of the condition.
Find out more about seizures and non-seizure aspects of Dravet Syndrome.
Read more about how 85% of people with a diagnosis of Dravet Syndrome have a change (mutation) in the gene known as SCN1A.
Discover the benefits of getting tested for genes that can cause Dravet Syndrome and what is involved.
Read about gene-based therapies that are currently being explored for Dravet Syndrome and what this might mean for future treatment.
Discover more about the background of this relatively newly diagnosed condition.