absence seizures Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Recurrent absence seizures are generalized seizures and are characterized by a loss of consciousness, thus, are a form of dialeptic seizures. (Human Phenotype Ontology, HP_0002121)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003216
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Genes

30 gene mutations causing the absence seizures phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADRA2A adrenoceptor alpha 2A
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
AP3D1 adaptor-related protein complex 3, delta 1 subunit
ARX aristaless related homeobox
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
C1QA complement component 1, q subcomponent, A chain
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CELF4 CUGBP, Elav-like family member 4
ELAVL3 ELAV like neuron-specific RNA binding protein 3
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GRIA4 glutamate receptor, ionotropic, AMPA 4
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2
HDAC4 histone deacetylase 4
KCNH3 potassium channel, voltage gated eag related subfamily H, member 3
LGI1 leucine-rich, glioma inactivated 1
LHX6 LIM homeobox 6
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SLC10A4 solute carrier family 10, member 4
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
TEF thyrotrophic embryonic factor
UBE3A ubiquitin protein ligase E3A