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.