Dravet syndrome and different developmental epileptic encephalopathies are uncommon however devastating situations that trigger a number of signs in kids, together with seizures, mental incapacity, and even sudden loss of life.
Most circumstances are attributable to a genetic mutation; Dravet syndrome particularly is most frequently attributable to variants within the sodium channel gene SCN1A.
Latest analysis from Michigan Medication takes intention at one other variant in SCN1B, which causes an much more extreme type of DEE.
Mice with out the SCN1B gene expertise seizures and 100% mortality simply three weeks after delivery.
Utilizing mouse fashions, the investigative crew, led by Chunling Chen, M.D., and Yukun Yuan, M.D., Ph.D., within the lab of Lori Isom, Ph.D., of the Division of Pharmacology on the Medical Faculty, examined a gene remedy to exchange SCN1B to extend the expression of beta-1 protein, which is critical for the regulation of sodium channels within the mind.
Administering the remedy to new child mice elevated their survival, diminished the severity of their seizures and restored mind neuron excitability.
The crew notes that totally different types of SCN1B gene expression might lead to totally different outcomes for the remedy.
Nonetheless, the proof-of-concept is step one towards a gene alternative remedy for SCN1B-linked developmental and epileptic encephalopathy.
Supply:
Journal reference:
Chen, C., et al. (2025). Neonatal however not Juvenile Gene Remedy Reduces Seizures and Prolongs Lifespan in SCN1B-Dravet Syndrome Mice. Journal of Scientific Investigation. doi.org/10.1172/jci182584.