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Infantile spams registry

We are conducting several prospective and retrospective studies on children with infantile spasms to identify clinical predictors of treatment response and outcomes.

  • Harini C, Nagarajan E, Bergin AM, Pearl P, Loddenkemper T, Takeoka M, Morrison PF, Coulter D, Harappanahally G, Marti C, Singh K, Yuskaitis C, Poduri A, Libenson MH. Mortality in infantile spasms: A hospital-based study. Epilepsia. 2020 Apr;61(4):702-713. PMID: 32133641
  • Trowbridge SK, Yuskaitis CJ, Baumer N, Libenson M, Prabhu SP, Harini C. Brain MRI abnormalities in patients with infantile spasms and Down syndrome. Epilepsy Behav. 2019 Mar; 92:57-60. PMID: 30616066.
  • Harini C, Sharda S, Bergin AM, Poduri A, Yuskaitis CJ, Peters JM, Rakesh K, Kapur K, Pearl PL, Prabhu SP. Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms. J Child Neurol. 2018 05; 33(6):405-412.
  • Yuskaitis CJ, Ruzhnikov MRZ, Howell KB, Allen IE, Kapur K, Dlugos DJ, Scheffer IE, Poduri A, Sherr EH. Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation. Pediatr Neurol. 2018 10; 87:48-56.
  • Hodgeman RM, Kapur K, Paris A, Marti C, Can A, Kimia A, Loddenkemper T, Bergin A, Poduri A, Libenson M, Lamb N, Jafarpour S, Harini C. Effectiveness of once-daily high-dose ACTH for infantile spasms. Epilepsy Behav. 2016 06; 59:4-8.

Infantile spasms biorepository

We are enrolling patients newly diagnosed with infantile spasms to identify molecular biomarkers as predictors of treatment response and overall outcomes.

Models of infantile-related genes

We are using preclinical models to study how alterations in genes associated with infantile spasms affect brain development and lead to epilepsy, with the ultimate goal of developing targeted therapies for these patients.

  • Yuskaitis CJ, Rossitto LA, Gurnani S, Bainbridge E, Poduri A, Sahin M. Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice. Hum Mol Genet. 2019 09 01; 28(17):2952-2964.
  • Yuskaitis CJ, Jones BM, Wolfson RL, Super CE, Dhamne SC, Rotenberg A, Sabatini DM, Sahin M, Poduri A. A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility. Neurobiol Dis. 2018 03; 111:91-101.