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ABSTRACT:
SUBMITTER: Farnaes L
PROVIDER: S-EPMC5593154 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Farnaes Lauge L Nahas Shareef A SA Chowdhury Shimul S Nelson James J Batalov Serge S Dimmock David M DM Kingsmore Stephen F SF
Cold Spring Harbor molecular case studies 20170901 5
A 9-mo-old infant was admitted with infantile spasms that improved on administration of topiramate and steroids. He also had developmental delay, esotropia, and hypsarrhythmia on interictal electroencephalogram (EEG), and normal brain magnetic resonance imaging (MRI). West syndrome is the triad of infantile spasms, interictal hypsarrhythmia, and mental retardation. Rapid trio whole-genome sequencing (WGS) revealed a novel, likely pathogenic, de novo variant in the gene encoding γ-aminobutyric ac ...[more]