What is SCN2A mutation?

What is SCN2A mutation?

All children with SCN2A-related disorders have a pathogenic variant (“mutation”) in the gene SCN2A, which encodes the instructions to make a protein in the brain called a sodium channel. Pathogenic variants that affect the SCN2A sodium channel impair the flow of sodium ions in the brain.

What does SCN2A mean?

SCN2A is the name of a gene that codes for part of the sodium or salt channel. This is an electrically activated gate in the brain which allows sodium in and out of neurones [cells that conduct nerve impulses], affecting the excitability of the brain.

What is the life expectancy of someone with Dravet syndrome?

The average life expectancy of people with Dravet syndrome is not clear, but estimates suggest that 10–20% of individuals with Dravet syndrome do not survive beyond the age of 10. Sudden unexpected death in epilepsy (SUDEP) is the most common cause.

Is there a cure 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.

Is SCN2A genetic?

» Genetics & Physiology of SCN2A SCN2A is one of the genes most commonly associated with early-onset epilepsy, and has recently been linked to autism spectrum disorder and developmental delay.

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.

Can you grow out of Dravet syndrome?

While there is no cure for Dravet syndrome, early diagnosis and treatment may minimize seizure frequency and intensity. Without treatment, individuals will continue to have frequent seizures and can suffer from seizure-related accidents or even mortality.