Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation.

ABSTRACT:

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 developmental delay (15% mild, 20% moderate, and 50% severe) at last assessment (me

SUBMITTER: Yuskaitis CJ 

PROVIDER: S-EPMC8188823 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature