Generalized Clonic Seizures Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Seizures with regularly repetitive myoclonus, involving the same muscle groups, at a frequency of about 2-3 c/sec. (Human Phenotype Ontology, HP_0011169)
External Link https://www.disgenet.org/browser/0/1/0/C4023499
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Genes

18 genes associated with the disease Generalized Clonic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACSF3 acyl-CoA synthetase family member 3
ARX aristaless related homeobox
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CDKL5 cyclin-dependent kinase-like 5
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
NEUROD2 neuronal differentiation 2
PCDH19 protocadherin 19
PIGP phosphatidylinositol glycan anchor biosynthesis, class P
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q
PNKP polynucleotide kinase 3'-phosphatase
PSAP prosaposin
SCN2A sodium channel, voltage gated, type II alpha subunit
SIK1 salt-inducible kinase 1
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
STXBP1 syntaxin binding protein 1
TRIM8 tripartite motif containing 8