epileptic encephalopathy Gene Set
Genes
18 genes associated with the epileptic encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
BOLA3
|
bolA family member 3
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
CHD2
|
chromodomain helicase DNA binding protein 2
|
|
DOCK7
|
dedicator of cytokinesis 7
|
|
GABRA1
|
gamma-aminobutyric acid (GABA) A receptor, alpha 1
|
|
GNAO1
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
|
|
HCN1
|
hyperpolarization activated cyclic nucleotide gated potassium channel 1
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
NECAP1
|
NECAP endocytosis associated 1
|
|
NRXN1
|
neurexin 1
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SLC13A5
|
solute carrier family 13 (sodium-dependent citrate transporter), member 5
|
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SYNGAP1
|
synaptic Ras GTPase activating protein 1
|
|
TBC1D24
|
TBC1 domain family, member 24
|
