generalized myoclonic seizures Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Seizures with sudden, brief (< 100 msec) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). (Human Phenotype Ontology, HP_0002123)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002123
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Genes

27 genes associated with the generalized myoclonic seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AFG3L2 AFG3-like AAA ATPase 2
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CDKL5 cyclin-dependent kinase-like 5
CHD2 chromodomain helicase DNA binding protein 2
ELOVL4 ELOVL fatty acid elongase 4
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
GBA glucosidase, beta, acid
GLB1 galactosidase, beta 1
GRN granulin
IER3IP1 immediate early response 3 interacting protein 1
KCTD7 potassium channel tetramerization domain containing 7
MFSD8 major facilitator superfamily domain containing 8
NDE1 nudE neurodevelopment protein 1
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
PCDH19 protocadherin 19
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PRICKLE1 prickle homolog 1 (Drosophila)
PRICKLE2 prickle homolog 2 (Drosophila)
SCN1A sodium channel, voltage gated, type I alpha subunit
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
STXBP1 syntaxin binding protein 1
TBC1D24 TBC1 domain family, member 24
Funding