Condition: Infantile Spasm


rs387906799 in KIF1A gene and Infantile Spasm PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs1557043622 in SLC35A2 gene and Infantile Spasm PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs864309676 in STX7 gene and Infantile Spasm PMID 26395554 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

rs1564351388 in STXBP1 gene and Infantile Spasm PMID 26865513 2016 STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.