Key Information About Dravet Syndrome
Dravet syndrome is also known as Severe Myoclonic Epilepsy of Infancy (SMEI). A US epidemiology study concluded that it is twice as common as previously recognized, affecting 1:15,700 infants, 80 percent of whom have an SCN1A mutation.
The syndrome was first described in 1982 by a French doctor named Charlotte Dravet and was initially named "severe myoclonic epilepsy of infancy." The name was later changed to honor the doctor who discovered it.
Dravet syndrome is believed to be caused by a defect in the function of the sodium channels and is described as a form of channelopathy.
This severe form of epilepsy is usually not inherited from parents. Most cases are caused by a mutated gene known as SCN1A. About 80 percent of Dravet syndrome patients have the altered SCN1A gene.
The SCN1A gene belongs to a family of genes which provide instructions to make sodium channels.
These channels, which transport positively charged sodium atoms into cells, play an important role in a cell's ability to generate and transmit electrical signals.
Scientists think that people with Dravet syndrome may have alterations in the serotonin signaling pathway, but exact problems are not known.
Dravet syndrome is characterized by seizures, cognitive deficits, and increased mortality.
This first seizure is usually febrile. These febrile seizures are usually so-called tonic-clonic seizures characterized by stiffness, unconsciousness, and jerking.
In infants with Dravet syndrome, febrile convulsions may be unusually long, sometimes lasting 15 to 30 minutes or longer.
As children with Dravet syndrome get older, their decline in cognitive function stabilizes. The degree of intellectual disability varies widely from mild to profound, yet most teenages and adults with Dravet syndrome are dependent on caregivers.
Genetic blood tests can screen for SCN1A mutations and a few other mutations linked to Dravet syndrome.
Seizures in Dravet syndrome are difficult to control, but can be reduced by anticonvulsant drugs. A ketogenic diet, high in fats and low in carbohydrates, also may be beneficial.
Have you tried keto diet?
It is impossible to prevent Dravet syndrome because it is a genetic mutation, with no known causes.
However, if your child is diagnosed with this disease you can prevent potential triggers like fever, illness, or any change of temperature.
One important aspect is to control triggers enabling the child to lead a good quality of life without disabling their daily activities.
- Dravet syndrome is also called SMEI.
- It was first described by a French doctor named Charlotte Dravet.
- It is described as a form of channelopathy.
- About 80 percent of SMEI patients have the altered SCN1A gene.
- In infants with SMEI, febrile convulsions sometimes last more than half an hour.
- Genetic blood tests are used to diagnose Dravet syndrome.
- Keto diet benefits SMEI patients.
- It is impossible to prevent Dravet syndrome.
This content is accurate and true to the best of the author’s knowledge and does not substitute for diagnosis, prognosis, treatment, prescription, and/or dietary advice from a licensed health professional. Drugs, supplements, and natural remedies may have dangerous side effects. If pregnant or nursing, consult with a qualified provider on an individual basis. Seek immediate help if you are experiencing a medical emergency.
© 2019 Srikanth R