childhood absence epilepsy

Summary
Synonym
  • petit mal seizure
  • pyknolepsy
Definition
A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.
Super Class
childhood electroclinical syndrome
Disease Ontology
DOID:1825
MeSH
UMLS
NCI Thesaurus
Related Genes
Displaying entries 11 - 17 of 17 in total
Gene ID Gene Symbol Description Source
4889 NPY5R neuropeptide Y receptor Y5
6513 SLC2A1 solute carrier family 2 member 1
7534 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta
8912 CACNA1H calcium voltage-gated channel subunit alpha1 H
10369 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2
163175 LGI4 leucine rich repeat LGI family member 4
348980 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
Displaying entries 1 - 10 of 16 in total
Gene ID Gene Symbol Description Source
12286 Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
12300 Cacng2 calcium channel, voltage-dependent, gamma subunit 2
14402 Gabrb3 GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3
14406 Gabrg2 gamma-aminobutyric acid type A receptor, subunit gamma 2
14661 Glud1 glutamate dehydrogenase 1
14805 Grik1 glutamate receptor, ionotropic, kainate 1
15165 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
15566 Htr7 5-hydroxytryptamine (serotonin) receptor 7
17395 Mmp9 matrix metallopeptidase 9
18166 Npy1r neuropeptide Y receptor Y1
Displaying entries 1 - 10 of 12 in total
Gene ID Gene Symbol Description Source
24399 Glud1 glutamate dehydrogenase 1
24778 Slc2a1 solute carrier family 2 member 1
24922 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3
25340 Npy5r neuropeptide Y receptor Y5
25398 Cacna1a calcium voltage-gated channel subunit alpha1 A
29559 Grik1 glutamate ionotropic receptor kainate type subunit 1
29709 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2
65032 Htr7 5-hydroxytryptamine receptor 7
81687 Mmp9 matrix metallopeptidase 9
84347 Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
32158 cac cacophony
32554 Lcch3 Ligand-gated chloride channel homolog 3
38109 Glut1 Glucose transporter 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
560875 cacna1ha calcium channel, voltage-dependent, T type, alpha 1H subunit a
562059 cacna1aa calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, a
569528 cacna1ab calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, b
Displaying all 5 entries
Gene ID Gene Symbol Description Source
175383 zmp-2 Matrix metalloproteinase-B
176204 glr-1 Glutamate receptor 1
176691 gab-1 Gamma-aminobutyric acid receptor subunit beta
179991 zmp-4 Hemopexin;Peptidase metallopeptidase domain-containing protein
180351 W01F3.2 Uncharacterized protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
852543 VVS1 Vvs1p

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