Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms.
Scott DemarestJeff CalhounKrista EschbachHung-Chun YuDavid MirskyKatie AngioneTamim H ShaikhGemma Louise CarvillTimothy A Benkenull nullPublished in: Developmental medicine and child neurology (2021)
This study supports the utility of WES in uncovering the genetic etiology in undiagnosed individuals with infantile spasms with an overall yield of five out of 21. High-priority candidates were identified in an additional five individuals. WES provides additional support for previously described disease-associated genes and expands their already broad mutational and phenotypic spectrum.