Gene Therapy Offers Hope for Children with Severe Epilepsy

Dravet syndrome and other developmental epileptic encephalopathies (DEEs) are rare but debilitating conditions affecting children. These disorders bring a myriad of symptoms, including seizures, intellectual disabilities, and in severe cases, sudden death.

Understanding the Genetic Underpinnings

Most cases of DEEs arise from genetic mutations. Dravet syndrome, in particular, is frequently linked to variations in the sodium channel gene, SCN1A. Recently, researchers from Michigan Medicine have investigated another variant in the SCN1B gene, which leads to an even more severe form of DEE.

Severity of SCN1B-Linked DEE

Mice lacking the SCN1B gene experience life-threatening seizures just three weeks after birth, with all animals succumbing to their condition.

New Gene Therapy Approach

A interdisciplinary team led by Chunling Chen, M.D., and Yukun Yuan, M.D., Ph.D., in the laboratory of Lori Isom, Ph.D., from the Department of Pharmacology at the University of Michigan Medical School, explored a gene therapy strategy. They aimed to introduce SCN1B into newborn mice to boost the expression of beta-1 protein. This protein is crucial for the regulation of sodium channels in the brain.

Experimental Results

Administering the gene therapy to newborn mice dramatically improved their survival rates. Seizure severity was also significantly reduced, and brain neuron excitability was restored.

Considerations for Future Applications

While the therapy demonstrated promising results, the researchers note that differences in the expression of SCN1B gene could potentially impact therapy outcomes. Nonetheless, this proof-of-concept marks an important step toward developing a gene replacement therapy for SCN1B-linked developmental and epileptic encephalopathy.

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