Infantile spasms (IS) is a rare epilepsy syndrome associated with stereotypical spasms, developmental delay, and a telltale brainwave pattern.

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** Special Edition: 25th Anniversary
CURE Epilepsy Discovery
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** CURE Epilepsy Grantee Discovers Specific Alterations in the Inhibitory Neurotransmitter System in Infantile Spasms (IS)
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CURE Epilepsy launched the Infantile Spasms Initiative (IS Initiative) ([link removed]) in 2013 with a team science approach to bring together groups of investigators working on diverse topics related to IS; this one-of-a-kind initiative in epilepsy research contributed immensely to today’s understanding of IS and its mechanisms ([link removed]) .

Infantile spasms (IS) ([link removed]) is a devastating and rare epilepsy syndrome that is typically seen in the first year of a child’s life, most commonly between four and eight months of age.[1, 2] One in 2,000 children is affected by infantile spasms, and worldwide it is estimated that one baby is diagnosed with IS every 12 minutes.[3] IS consists of the following characteristics: subtle seizures consisting of repetitive, but often subtle movements—such as jerking of the mid-section, dropping of the head, raising of the arms or wide-eyed blinks; developmental delay and cognitive and physical deterioration; and a signature disorganized, atypical brainwave pattern called “hypsarrhythmia.”[4, 5] Potential causes include brain injuries or infections, issues with brain development and malformations, gene variants, or metabolic conditions. IS can sometimes have an underlying genetic cause as well.[2, 6] Often, infants appear to
develop normally until spasms start, but then show signs of regression. Some infants may have hundreds of such seizures a day.

Current treatment for IS consists of hormonal therapy such as adrenocorticotropic hormone and prednisone, and antiseizure medications such as vigabatrin. These medications are effective in approximately half of the patients with IS.[7, 8] Even infants who have been diagnosed in a timely fashion may not respond to the available treatments, or they may suffer adverse side effects. There is no reliable way to predict who will respond favorably to medications.

As there was a dire need to better understand and treat IS, because there was no advocacy group or organization dedicated to IS and no organization was focusing on finding treatments or cures, CURE Epilepsy stepped in and leveraged our expertise as well as our resources to assemble the Infantile Spasms (IS) Initiative ([link removed]) in 2013.
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