What is SCN1A epilepsy?
SCN1A is the major gene for Dravet Syndrome, a severe epilepsy of childhood most prominently characterized by fever-induced seizures.
Is Dravet syndrome autosomal dominant?
In some cases, Dravet syndrome is inherited in an autosomal dominant pattern. All individuals inherit two copies of each gene .
What gene causes Dravet syndrome?
In at least 80 percent of cases, Dravet syndrome is caused by defects in a gene required for the proper function of brain cells. Mutations in the SCN1A gene (a gene that encodes as a sodium channel, a part of the cell membrane involved in nervous system function) are the primary causes of Dravet syndrome.
Does Dravet syndrome get worse?
Dravet syndrome is a lifelong condition and the symptoms do not improve. There is an increased risk of early death, often related to injuries due to seizures.
How do SCN1A mutations cause epilepsy?
The SCN1A gene codes for a sodium channel protein that regulates brain cell activity. Changes in the DNA sequence of the gene (referred to as variants) alter the sodium channel protein and lead to the brain being more susceptible to seizures.
Can you grow out of Dravet syndrome?
Dravet syndrome is a rare, severe, and lifelong form of epilepsy (seizure disorder). Most people affected by this condition have a good life expectancy. The disease typically starts in the first year of life, and around 80-85% of the children survive into adulthood.
What is the life expectancy of someone with Dravet syndrome?
Who treats Dravet syndrome?
Children with Dravet syndrome are best treated by specialist epilepsy doctors, and often require up to three different types of anti-epileptic medication to control their symptoms.
What is treatment for Dravet syndrome?
Although there is no cure for Dravet syndrome, most treatments aim to reduce seizures. First line anti-seizure medications include clobazam (Onfi, Frisium) and valproic acid (Depakote, Depakene). Second line treatments include stiripentol (Diacomit), topiramate (Topamax), and the ketogenic diet.
What is life expectancy for Dravet syndrome?
What is the life expectancy of a child with Dravet syndrome?
What kind of drugs can you take for Dravet syndrome?
For Dravet syndrome patients, the list here below indicates some of the drugs that may worsen seizures and therefore should be avoided: 1 Lamotrigine. 2 Carbamazepine. 3 Vigabatrin.
How does the genetics of Dravet syndrome work?
GENETICS OF DRAVET SYNDROME 1 90% of SCN1A mutations are de novo, meaning they are not found in the patient’s parents. 2 4-10% of SCN1A mutations are inherited from the parent. 3 There are over 6,000 places for a mutation to occur on the SCN1A gene. 4 Any type of SCN1A mutation can be seen in Dravet syndrome, and mutation type does not predict…
Can a sodium channel blocker cause Dravet syndrome?
Sodium channel blockers have been shown to worsen seizures in patients with Dravet syndrome (de Lange et al. 2018) and therefore should be avoided (Wirrell et al. 2017).
What to do if you suspect your loved one has Dravet syndrome?
GENETIC TESTING. If you suspect your loved one might have Dravet syndrome, ask your neurologist about testing, which is available through your doctor or commercially. An epilepsy panel will test for SCN1A as well as many other genes commonly associated with epilepsy. Following testing, consultation with a genetic counselor is recommended.
Can a person with Dravet syndrome have SCN1A?
Around 10-15% of individuals with a clinical diagnosis of Dravet Syndrome have no detected SCN1A mutation. In some cases, individuals might have a mutation in genes other than SCN1A that mimic Dravet Syndrome.
Is there a blood test for Dravet syndrome?
The genetic test for Dravet Syndrome is a simple blood test, available free of charge via the NHS in the UK. The test looks to see if there is a change in the genetic code. It is possible to test for just one gene (for example SCN1A ) but it is becoming common to test for a panel of epilepsy-related genes.
Are there other genetic mutations associated with Dravet syndrome?
Other genetic mutations may be associated with Dravet syndrome too. About 90 percent of gene mutations are new, or de novo, mutations. This means the mutation has not been inherited from a parent, but is a new, first-time mutation in the child.
For Dravet syndrome patients, the list here below indicates some of the drugs that may worsen seizures and therefore should be avoided: 1 Lamotrigine. 2 Carbamazepine. 3 Vigabatrin.