title: Infantile spasms associated with 5q14.3 deletion.
abstract: West syndrome consists of the triad of infantile spasms, characteristic electroencephalogram (EEG) pattern of hypsarrythmia and developmental delay. Infantile spasms generally occur in infants during the first year of life. There are different genetic mutations and syndromes associated with infantile spasms. We report the case of a white 14-month-old boy who developed infantile spasms and was found to have a 5q14.3 deletion.
authors.affiliation: Louisiana State University Health Sciences Center, Department of Pediatrics, School of Medicine, Shreveport, USA.
authors.forename: Ahmad
authors.initials: A
authors.lastname: Marashly
authors.forename: Rosario Maria S
authors.initials: RM
authors.lastname: Riel-Romero
authors.forename: Susonne
authors.initials: S
authors.lastname: Ursin
authors.forename: Hani
authors.initials: H
authors.lastname: Ghawi
mesh_terms: D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D004569:Electroencephalography; D006801:Humans; D007223:Infant; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D013036:Spasms, Infantile / Q000235:genetics*