Is Dravet syndrome life threatening?
Dravet Syndrome Mortality One potentially fatal issue with Dravet syndrome is status epilepticus, which occurs when a seizure lasts for more than 5 minutes or when seizures occur in succession such that the person doesn’t recover between them. Both of these issues can be deadly.
What is the life expectancy of LGS?
The characteristic diffuse slow spike wave pattern of LGS gradually disappears with age and is replaced by focal epileptic discharges, especially multiple independent spikes. Mortality rate is reported at 3% (mean follow-up period of 8.5 y) to 7% (mean follow-up period of 9.7 y). Death often is related to accidents.
Do epileptics have a shorter lifespan?
Reduction in life expectancy can be up to 2 years for people with a diagnosis of idiopathic/cryptogenic epilepsy, and the reduction can be up to 10 years in people with symptomatic epilepsy. Reductions in life expectancy are highest at the time of diagnosis and diminish with time.
Is Dravet syndrome a disability?
Dravet Syndrome is now one of the conditions that may qualify an individual for Social Security Disability claim processing under the SSA’s Compassionate Allowances guidelines.
Can you live a normal life with 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 SCN1A gene?
The SCN1A gene belongs to a family of genes that provide instructions for making sodium channels. These channels, which transport positively charged sodium atoms (sodium ions) into cells, play a key role in a cell’s ability to generate and transmit electrical signals.
What’s the worst type of epilepsy?
A grand mal seizure causes a loss of consciousness and violent muscle contractions. It’s the type of seizure most people picture when they think about seizures. A grand mal seizure — also known as a generalized tonic-clonic seizure — is caused by abnormal electrical activity throughout the brain.
What age does Lennox-Gastaut syndrome start?
The symptoms of Lennox-Gastaut syndrome usually begin during infancy or childhood, most often between 3 to 5 years of age. Multiple types of seizures, which are basically electrical disturbances in the brain, affect children with Lennox-Gastaut syndrome.
How long can you live with Dravet syndrome?
Does epilepsy worsen with age?
Other factors that can affect your overall prognosis include: Age: Adults over the age of 60 may experience an increased risk for epileptic seizures, as well as related complications.
What triggers 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 cause brain damage?
Dravet syndrome is a disease characterized by prolonged and frequent seizures that begin in the first year of life and are difficult to control with medication. These seizures are harmful to the developing brain and can cause cognitive and behavioral impairment in patients.
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…
What happens to sodium ion channels in Dravet syndrome?
70-80% of patients diagnosed with Dravet syndrome have an SCN1A mutation [1]. The SCN1A gene codes for the production of sodium ion channels, which are pore-like proteins embedded in the cell membrane that allow sodium ions into and out of the cell, propagating electrical signals.
When do you know if you have Dravet syndrome?
Because many of these criteria are not apparent in the first year of life and infants with Dravet syndrome initially experience typical development, the study determined genetic testing via an epilepsy panel should be considered in patients exhibiting any of the following: 2 or more prolonged seizures by 1 year of age.
How is SUDEP related to Dravet syndrome?
Patients with Dravet syndrome face a 15-20% mortality rate due to SUDEP (Sudden Unexpected Death in Epilepsy), prolonged seizures, seizure-related accidents such as drowning, and infections [2,3]. Research for a cure offers patients and families hope for a better quality of life for their loved ones. WE NEED YOUR HELP