If the sodium channels don't function properly, cells can get overexcited. One cell's overexcitement can travel through the brain like hysteria through a crowded stadium, stampeding into a seizure. The gene mutated in Dravet syndrome is called sodium channel gene 1a, or Scn1a.
It's considered a super-culprit for epilepsy, with more than 1, different Scn1a mutations identified. The severity of the epilepsy caused by Scn1a depends on whether the mutation causes partial or complete loss of the sodium channel's function. The Dravet mutation is on the severe end of the spectrum. People with Dravet syndrome tend to have dramatic seizures, exacerbated by hot weather, and the syndrome is very hard to control with anti-epileptic medications.
There's a somewhat paradoxical part of Dravet syndrome, too: this Scn1a mutation makes the sodium channels less active, not more. Instead of making cells overactive, it makes them underactive. But there's a catch. This mutation mostly affects inhibitory cells -- that is, cells in charge of calming the brain down. They're the stadium bouncers, so to speak. And if the bouncers are asleep on the job, the overexcited neurons can stampede uninhibited.
To understand how this might lead to SUDEP, Kuo wanted to test two things: first, whether the mice with the Dravet syndrome mutation show breathing problems and die prematurely of SUDEP, and second, whether the cells in the part of the mice's brainstem that controls breathing were normal or were somehow perturbed by the mutation.
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Support Center Support Center. External link. Please review our privacy policy. Every night Not taking medication as prescribed can lead to more seizures, which raises risk. While there is no cure to prevent SUDEP, there are steps that patients with epilepsy and their families can take to minimize the risk as much as possible. Strategies include:. Striving for maximum seizure control by closely following treatment plans. Regular exercise , and lifestyle habits that reduce stress and seizure activity.
Regular doctor visits , especially if convulsive seizures are not controlled. Considering options such as epilepsy surgery, or dietary therapy. Talking with your doctor about a cardiac evaluation, to rule out heart problems. Ensuring that family members and caretakers know seizure first aid and emergency resuscitation measures, including CPR and defibrillator use.
Short of that, having another person present during or right after a seizure is a huge plus for safety. However, there are technologies and devices that can alert family members and caregivers when a seizure happens, so they can do a well-being check. A growing number of alerting systems exist, but awareness of them remains low and insurance coverage is rare--even for the few among them that have FDA approval. Caregivers can explore alerting devices as an added safety measure within a treatment plan.
The Danny Did Foundation provides counseling for parents on how to select a device, as well as grant funding for families who need financial support to access a device. By Mike Stanton. My wife and I feel the best way to honor the life of Danny is to redouble our efforts to prevent this tragedy from happening to others. In , we established the Danny Did Foundation.
The Danny Did Foundation works with the American Academy of Pediatrics to serve as a resource for questions and support.
What is epilepsy? Here's what you need to know about the seizure-causing spectrum of disorders. Because the deaths are often connected to seizures, the most important thing patients can do to reduce their risk is take seizure medication as prescribed, according to the CDC.
Pill cases and trackers can help patients with their medication, French said, but she acknowledged that adherence can be challenging, especially for young people who are living independently.
Reducing the risk of death. The CDC also recommends that people with epilepsy avoid known seizure triggers, avoid drinking too much alcohol and get enough sleep. But doctors shouldn't be content with just reducing the number of seizures, French said. Get CNN Health's weekly newsletter. If patients are going to a place where there's no specialized care for epilepsy, then they should consider seeking out specialized care.
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