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Infantile spasms (IS) is a rare catastrophic form of epilepsy with approximately 90% of the cases beginning within the first year of life [1,2]. The condition is characterized by seizures with sudden brief jerking movements of the arms and legs or head bobs and often, though not always, an atypical, chaotic pattern of brain waves on the electroencephalogram (EEG) known as hypsarrhythmia [3]. The seizures are accompanied by significant development delays as well as cognitive and physical deterioration [2]. Standard treatments include adrenocorticotropic hormone (ACTH) or prednisone, and the antiseizure medication vigabatrin [4]. Unfortunately, only approximately 50% of children with IS respond to these treatments and there remains no reliable way of predicting who will respond favorably [4]. Even if these treatments diminish IS symptoms for a specific patient, they can have serious side effects. Therefore, scientists have been searching for other drug targets with the ultimate goal of developing alternative therapies.
One of these scientists is Dr. John Swann, Professor of Pediatrics at the Baylor College of Medicine, who leveraged findings from his work as part of the CURE Epilepsy Infantile Spasms Initiative (2013-2017). With additional funding from NIH, Dr. Swann and his team used a previously developed rat model of IS [5] that mirrors many of this disorder’s symptoms, to investigate spasms that result from pediatric brain injuries, such as those suffered during a traumatic birth.
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