03/15/2018 | Press release | Distributed by Public on 03/16/2018 15:52
Infantile spasms are the most common form of epilepsy occurring in the first year of life. Despite appearing mild externally, the characteristic EEG pattern for infantile spasms shows a chaotic disruption of normal brain activity indicative of a highly severe form of epilepsy. The study found that, regardless of the many possible causes for infantile spasms, the age of onset had a sharp peak around 6 months of age, which is very different from the age pattern seen for other seizure types in early life, underscoring the unique developmental nature of infantile spasms. Also unique to infantile spasms are some of the evidence-based treatments used - steroids and the hormone ACTH, neither a typical anti-seizure medication.
Given the unique features of infantile spasms, Berg and colleagues looked at what distinguishes the various genes associated with this disorder, compared to the genes involved in other forms of epilepsies that began in the first year of life. Their analysis of the underlying biology included infants diagnosed through genetic testing at 17 U.S.-based pediatric epilepsy programs participating in the Pediatric Epilepsy Research Consortium.
'We used bioinformatics tools to perform what is called gene set enrichment analysis, which means that we looked at common molecular properties of genes that lead to infantile spasms and other types of seizures,' says Dr. Berg. 'We examined how these genes function in the cell, in what processes they are involved, where in the cell they are expressed. We found that the genes associated with infantile spasms are uniquely involved in developmental functions within the cell body, which might be linked to why spasms tend to start at the same time in an infant's development.'