February 26, 2024

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Incurable severe epilepsy incurable may be overcome by gene therapy

Incurable severe epilepsy incurable may be overcome by gene therapy


Incurable severe epilepsy incurable may be overcome by gene therapy.

Paige, a 4-year-old girl, is referred to by her family as the “Princess Warrior”, not because of her strong physique, but because she has been burdened with hardships since infancy. Pain to endure.


She had her first seizure when she was 6 months old, and her symptoms subsided after her parents took her to the hospital for treatment.

However, for the next two months, she suffered multiple seizures of various types, such as clonus and muscle spasms.


Little Page underwent genetic testing when he was 8 months old and was told he had Dravet syndrome, also known as infantile severe myoclonic epilepsy.

It’s a progressive disease, but there are few effective treatments to help Page, and she suffers from a number of negative effects, including slow movement, difficulty sleeping and a low immunity.


There are many children like Little Page. This disease occurs about 1 in every 15,700 to 40,000 people.

It is mainly caused by the mutation of the SCN1A gene, a type of nerve cell in the patient – interneuron. Deletion of SCN1A protein.


Conventional drug therapy, vagus nerve stimulation therapy can not solve the root cause of the problem. This is also the main reason why many children have to endure pain and suffering.

But recently, a new study in Brain Research has led to a class of gene therapy for Dravet syndrome that has yielded more optimistic results in mice.


The new study calls this gene therapy TANGO, which is essentially a class of antisense oligonucleotides that can effectively increase the mRNA level of SCN1A, thereby increasing protein expression.

The researchers constructed a group of mouse models with Dravet syndrome in which the Scn1a gene was artificially knocked out.


They then completed the TANGO therapy in the experimental group of mice by intracerebroventricular injection at the early stage of the symptoms of the mice.

Through later observation, the researchers found that a single TANGO therapy could repair the gene defect of the interneuron, and the treated mice had The interneurons were able to make large amounts of SCN1A protein like normal mice.


Incurable severe epilepsy incurable may be overcome by gene therapy

▲Gene therapy can reduce the frequency of epileptic seizures and improve the survival rate (Image source: Reference [2])


Restoring the normalized interneurons could restore the effect of limiting brain excitation and preventing epilepsy.

The TANGO-treated mice had significantly less seizures and survived significantly longer than the control group.

These results suggest that gene therapy can work directly at the root cause of the disease, while delivering positive therapeutic effects, the researchers noted.





[1] Research boosts case for new gene therapy to treat severe form of epilepsy. Retrieved Jan 19th, 2022 from https://medicalxpress.com/news/2022-01-boosts-case-gene-therapy-severe.html

[2] Eric R. Wengert et al, Targeted Augmentation of Nuclear Gene Output (TANGO) of Scn1a rescues parvalbumin interneuron excitability and reduces seizures in a mouse model of Dravet Syndrome, Brain Research (2021). DOI: 10.1016/j.brainres. 2021.147743

Incurable severe epilepsy incurable may be overcome by gene therapy

(source:internet, reference only)

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