Dravet syndrome and other development epileptic encephalopathies are rare but devastating conditions that cause a large number of symptoms in children, including seizures, intellectual disability and even sudden death.
Most cases are caused by a genetic mutation; Dravet syndrome in particular is caused more frequently by variants in the SCN1A sodium channel gene.
Recent investigations of Michigan’s medicine point to another variant in SCN1B, which causes an even more severe form of Dee.
Mice without seizures of the SCN1B gene and 100 percent mortality only three weeks after birth.
Using mice models, the research team, led by Chunling Chen, MD and Yukun Yuan, MD, Ph.D., in the Lori Isom Laboratory, Ph.D., of the Department of Pharmacology of the Faculty of Medicine, tested A gene therapy to replace SCN1B to increase the expression of beta-1 protein, which is necessary for the regulation of sodium channels in the brain.
The administration of newborn mice therapy increased its survival, reduced the seriousness of its seizures and restored the excitability of brain neurons.
The team indicates that different forms of expression of the SCN1B gene can lead to different results for therapy.
However, concept test is the first step towards a gene replacement therapy for development encephalopathy and epileptics linked to SCN1B.