Condition: Hypsarrhythmia


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

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