When Seizures Are Deadly: Addressing An Unspoken Crisis

2 min

Whether you realize it or not, you likely know someone who experiences seizures, or has had seizures in the past. That’s because more than 1% of Americans have active epilepsy, or more than 3 million adults and about 470,000 children. Luckily, for many of these individuals, those seizures can be easily controlled with medication. In other cases, however, seizures can prove deadly, either because of their persistence, the underlying disease pathology, or due to a poorly understood condition known as SUDEP – Sudden Unexpected Death in Epilepsy.

Despite these harrowing facts, there’s been a lot of good news recently for epilepsy patients and their families thanks to extensive support for brain research and related treatment development. Such work promises to address some of the most serious issues associated with seizure disorders, offering patients better quality of life, and even preventing tragic, premature deaths.

Expanding Treatment Options

While many people have well-managed seizures, as noted above, and may go years between episodes with proper medication, one of the most important projects in front of researchers today is the development of new medications and interventions. This includes examining natural epilepsy treatments like CBD oil, as well as new pharmaceuticals.

In exciting news for families, there’s recently there’s been some success on the treatment front, and it combines the natural and pharmaceutical approaches to epilepsy treatment. Epidolex, which is approved to treat two rare forms of infantile epilepsy, Dravet and Lennox-Gastaut syndromes, is a pharmaceutical-grade CBD derivative. Both of these conditions have the potential to be fatal and typical result in shortened lifespans, but Epidolex offers hope that children with the conditions could one day live normal lives.

Genetic Insights

In many cases, epilepsy is essentially idiopathic, meaning that there is no known pathology underlying the condition. However, in the case of more clearly defined disorders, such as Dravet Syndrome, which generally manifests by 12 months of age, researchers have been able to identify a number of genetic mutations. Most patients with Dravet Syndrome have an SCN1A mutation, though a group of atypical Dravet patients have also been identified with mutations including SCN1B, GABRG2, or HCN1.

By identifying these alternative mutation sites, researchers make it easier for clinicians to diagnose patients and provide appropriate treatment. Additionally, different genetic pathways may require different treatment modalities, especially as we enter into the era of more targeted treatments; genetic testing allows for this kind of differentiation.

Creating Better Models

One of the most exciting tools available to neuroscience researchers today are new gene editing technologies, the best known of which is CRISPR. However, CRISPR has significant limitations because it cannot be safely used in humans, and once deployed changes cannot be reversed. However, scientists have had significant success using a different tool, antisense oligonucleotides (ASOs) to treat mouse models of Dravet Syndrome.

ASOs, which are injected directly into the brain in this case, represent an ideal intervention for genetic diseases because they simply silence genes by binding to particular RNA sequences, rather than changing the genetic sequence. This means that they are reversible, making them a far less dangerous potential intervention and one that isn’t dependent on invasive and typically unrealistic germline editing strategies.

New Hope

Many people with seizure disorders and their families live in fear of SUDEP, status epilepticus, and other complications of these conditions, and rightly so, but scientists are working hard to eradicate these issues. Only then will these families breathe easy.

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