Researchers report that infantile spasms, a rare but serious seizure disorder in babies, appear to be the result of a molecular pathway gone awry. In their study of a mouse model of the disorder, the researchers discovered that genetic mutations associated with the disease impair a pathway that is involved in building new synapses in the hippocampus, a brain region essential to learning and memory.
The findings, described in the journal EMBO Reports, also detail the use of a potential therapeutic intervention to address some of the developmental problems that are often associated with infantile spasms.
“We are trying to understand the reasons behind learning and memory disabilities in patients with infantile spasms,” said Nien-Pei Tsai, a professor of molecular and integrative physiology at the University of Illinois Urbana-Champaign who led the study with U. of I. research scientist…