General therapy is promising in the treatment of epileptic encephalopathy associated with SCN1B

Dravet syndrome and other developmental epileptic encephalopathies are rare, but destructive states that cause many symptoms in children, including attacks, intellectual disability and even sudden death.

Most cases are caused by Genetic mutation; In particular, the Dravet syndrome is most often caused by the variants of the SCN1A gene gene gene.

Recent studies of Michigan Medicine are aimed at another variant in SCN1B, which causes an even heavier form of DEE.

Mice without SCN1B genes experience seizures and 100 % mortality just three weeks after birth.

Using mouse models, an investigative team, led by Chunling Chen, MD and Yukun Yuan, Dr. MD, in the Lori ISOM laboratory, from the Department of Pharmacology at the Medical School, tested A Gene therapy Replace SCN1B to increase the expression of beta-1 protein, which is necessary to adjust sodium channels in the brain.

The administration of newborn mice increased their survival, reduced their seizures and restored the excitability of the brain neuron.

The team notes that various forms of SCN1B gene expression can cause different therapy results.

However, the proof of the concept is the first step towards substitute therapy of genes for developmental and epileptic encephalopathy.