Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation
Christopher J Yuskaitis, Maura RZ Ruzhnikov, Katherine B Howell, I Elaine Allen, Kush Kapur, Dennis J Dlugos, Ingrid E Scheffer, Annapurna Poduri, Elliott H Sherr
PEDIATRIC NEUROLOGY | ELSEVIER SCIENCE INC | Published : 2018
BACKGROUND: No large-scale studies have specifically evaluated the outcomes of infantile spasms (IS) of unknown cause, previously known as cryptogenic or idiopathic. The Epilepsy Phenome/Genome Project aimed to characterize IS of unknown cause by phenotype and genotype analysis. METHODS: We undertook a retrospective multicenter observational cohort of 133 individuals within the Epilepsy Phenome/Genome Project database met criteria for IS of unknown cause with at least six months of follow-up data. Clinical medical records, imaging, and electroencephalography were examined. RESULTS: Normal development occurred in only 15% of IS of unknown cause. The majority (85%) had clinically documented de..View full abstract
Awarded by NINDS
Awarded by NIH
Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
Dr. Yuskaitis was supported by the Fred Lovejoy House-staff Research and Education Fund and the NINDS (2R25NS070682-07). Dr. Ruzhnikov was supported by the Michael Sanlnocencio LGS Research Grant from the Child Neurology Foundation. Dr. Howell is supported by the Gustav Nossal NHMRC-Postgraduate Scholarship and the Clifford PhD Scholarship. Dr. Dlugos is funded by NIH grants 1R01NS053998, 2U01NS045911, 1R01LM011124, U01NS077276 and by the Epilepsy Study Consortium. Dr. Poduri was supported by the NINDS (K23 NS069784). Dr. Sherr was supported by grants from the NINDS (1U01NS077364 and 2R01NS058721) and a grant from Citizens United for Research in Epilepsy (CURE).