Treatment efficacy for infantile epileptic spasms syndrome in children with trisomy 21 by Henry Chen, Henry Chen, Adam L. Numis, Adam L. Numis, Renée A. Shellhaas, John R. Mytinger, Debopam Samanta, Rani K. Singh, Rani K. Singh, Shaun A. Hussain, Danielle Takacs, Kelly G. Knupp, Li-Rong Shao, Carl E. Stafstrom

“…BackgroundInfantile Epileptic Spasms Syndrome (IESS) is the most common epilepsy syndrome in children with trisomy 21. First-line standard treatments for IESS include adrenocorticotropic hormone (ACTH), oral corticosteroids, and vigabatrin. …”
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Pulmonary vascular malformations in genetic epileptic encephalopathy: A rare, fatal case report by N. Garancini, M. Ghezzi, A. Farolfi, V. Guaia, G. Canali, V. Fabiano, G.V. Zuccotti, E. D'Auria

“…Mutations of KCNT1 gene, encoding for a sodium-gated potassium channel, are causative of a wide spectrum of epilepsies and neurodevelopmental disorders; cardiovascular involvement also seems to be significant, with cardiac arrhythmia and, less frequently, the development of Systemic to Pulmonary Collateral Arteries (SPCAs) has been reported. …”
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