MCID: ERL003
MIFTS: 29

Early Onset Absence Epilepsy

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Early Onset Absence Epilepsy

MalaCards integrated aliases for Early Onset Absence Epilepsy:

Name: Early Onset Absence Epilepsy 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050708

Summaries for Early Onset Absence Epilepsy

Disease Ontology : 12 A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years.

MalaCards based summary : Early Onset Absence Epilepsy is related to generalized epilepsy with febrile seizures plus, type 1 and genetic epilepsy with febrile seizures plus. An important gene associated with Early Onset Absence Epilepsy is SLC2A1 (Solute Carrier Family 2 Member 1), and among its related pathways/superpathways are Circadian entrainment and Transmission across Chemical Synapses. Affiliated tissues include temporal lobe, and related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Early Onset Absence Epilepsy

Diseases in the Juvenile Absence Epilepsy family:

Epilepsy, Juvenile Absence 1 Early Onset Absence Epilepsy

Diseases related to Early Onset Absence Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 generalized epilepsy with febrile seizures plus, type 1 30.3 SCN1B SCN1A
2 genetic epilepsy with febrile seizures plus 30.2 SCN2A SCN1A
3 episodic kinesigenic dyskinesia 1 29.7 KCNQ2 GABRA1 CHRNA4
4 febrile seizures 29.4 SCN2A SCN1B SCN1A KCNQ2 GABRG2 CHRNB2
5 seizure disorder 27.6 SLC2A1 SCN2A SCN1B SCN1A KCNQ3 KCNQ2
6 epilepsy 27.0 SLC2A1 SCN2A SCN1B SCN1A KCNQ3 KCNQ2
7 epilepsy, idiopathic generalized 26.9 SLC2A1 SCN2A SCN1B SCN1A KCNQ3 KCNQ2
8 childhood absence epilepsy 26.8 SLC2A1 SCN2A SCN1B SCN1A KCNQ3 KCNQ2
9 generalized epilepsy with febrile seizures plus 26.4 SCN2A SCN1B SCN1A KCNQ3 KCNQ2 GABRG2
10 verbal auditory agnosia 10.3 SCN1B GABRG2
11 myoclonic epilepsy of infancy 10.2 SCN1A GABRG2
12 glucose transporter type 1 deficiency syndrome 10.2
13 febrile seizures, familial, 11 10.2 SCN1A GABRG2
14 epilepsy, nocturnal frontal lobe, 2 10.2 CHRNB2 CHRNA4
15 epilepsy, nocturnal frontal lobe, 3 10.2 CHRNB2 CHRNA4
16 febrile seizures, familial, 6 10.1 SCN1B SCN1A GABRG2
17 epilepsy, familial temporal lobe, 5 10.1 SCN1B SCN1A GABRG2
18 febrile seizures, familial, 8 10.1 SCN1B SCN1A GABRG2
19 febrile seizures, familial, 4 10.1 SCN1B SCN1A GABRG2
20 generalized epilepsy with febrile seizures plus, type 2 10.1 SCN1B SCN1A GABRG2
21 glut1 deficiency syndrome 1 10.1
22 low-grade astrocytoma 10.1 SCN2A SCN1A
23 generalized epilepsy with febrile seizures plus, type 7 10.1 SCN1B SCN1A GABRG2
24 trigeminal nerve disease 10.1 SCN2A SCN1A
25 developmental and epileptic encephalopathy 13 10.1 SCN2A SCN1B SCN1A
26 sturge-weber syndrome 10.1 SCN1A GABRG2
27 paramyotonia congenita of von eulenburg 10.1 SCN2A SCN1B SCN1A
28 paroxysmal extreme pain disorder 10.1 SCN2A SCN1B SCN1A
29 seizures, benign familial infantile, 3 10.0 SCN2A KCNQ2
30 long qt syndrome 3 10.0 SCN1B SCN1A
31 hyperkalemic periodic paralysis 10.0 SCN2A SCN1A
32 pervasive developmental disorder 10.0 SCN2A SCN1A GABRB3
33 ataxia and polyneuropathy, adult-onset 10.0
34 dystonia 9 10.0
35 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 10.0
36 glut1 deficiency syndrome 2 10.0
37 epilepsy, idiopathic generalized 12 10.0
38 monocarboxylate transporter 1 deficiency 10.0
39 metabolic acidosis 10.0
40 status epilepticus 10.0
41 dystonia 10.0
42 paroxysmal exertion-induced dyskinesia 10.0
43 paroxysmal dyskinesia 10.0
44 developmental and epileptic encephalopathy 9 10.0 SCN1A KCNQ2
45 kcnq2-related disorders 9.9 KCNQ3 KCNQ2
46 febrile seizures, familial, 5 9.9 SCN2A SCN1B SCN1A GABRG2
47 seizures, benign familial neonatal, 2 9.9 KCNQ3 KCNQ2
48 convulsions benign familial neonatal dominant form 9.9 KCNQ3 KCNQ2
49 encephalopathy 9.9 SCN2A SCN1A KCNQ2
50 developmental and epileptic encephalopathy 7 9.9 KCNQ3 KCNQ2

Graphical network of the top 20 diseases related to Early Onset Absence Epilepsy:



Diseases related to Early Onset Absence Epilepsy

Symptoms & Phenotypes for Early Onset Absence Epilepsy

MGI Mouse Phenotypes related to Early Onset Absence Epilepsy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 CHRNA4 CHRNB2 DEPDC5 EFHC1 GABRA1 GABRB3
2 growth/size/body region MP:0005378 10.06 CHRNB2 DEPDC5 GABRA1 GABRB3 GABRG2 KCNQ2
3 homeostasis/metabolism MP:0005376 9.96 CHRNA2 CHRNA4 CHRNB2 DEPDC5 GABRA1 GABRG2
4 mortality/aging MP:0010768 9.93 CHRNA4 CHRNB2 DEPDC5 GABRA1 GABRB3 GABRG2
5 nervous system MP:0003631 9.8 CHRNA2 CHRNA4 CHRNB2 DEPDC5 EFHC1 GABRA1
6 normal MP:0002873 9.17 CHRNA2 CHRNB2 GABRA1 GABRB3 GABRG2 SCN1A

Drugs & Therapeutics for Early Onset Absence Epilepsy

Search Clinical Trials , NIH Clinical Center for Early Onset Absence Epilepsy

Genetic Tests for Early Onset Absence Epilepsy

Anatomical Context for Early Onset Absence Epilepsy

MalaCards organs/tissues related to Early Onset Absence Epilepsy:

40
Temporal Lobe

Publications for Early Onset Absence Epilepsy

Articles related to Early Onset Absence Epilepsy:

(show all 30)
# Title Authors PMID Year
1
Monocarboxylate transporter-1 deficiency results in severe metabolic acidosis with ketogenic diet in early onset absence epilepsy: Case report. 61
31812089 2020
2
Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies. 61
31401500 2019
3
Human GABRG2 generalized epilepsy: Increased somatosensory and striatothalamic connectivity. 61
31321301 2019
4
The glucose transporter type 1 (Glut1) syndromes. 61
30076047 2019
5
Rare and Treatable Cause of Early-Onset Refractory Absence Seizures. 61
30271476 2018
6
Myoclonic jerks are commonly associated with absence seizures in early-onset absence epilepsy. 61
28540848 2017
7
Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour. 61
26336901 2016
8
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. 61
26537434 2015
9
Intermittent Ataxia with Early Onset Absence Epilepsy in Glucose Transporter Type 1 Deficiency Syndrome. 61
26615362 2015
10
From splitting GLUT1 deficiency syndromes to overlapping phenotypes. 61
26193382 2015
11
Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet? 61
26088884 2015
12
When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies? 61
25532859 2015
13
Glucose metabolism transporters and epilepsy: only GLUT1 has an established role. 61
24483274 2014
14
Early-onset absence epilepsy aggravated by valproic acid: a video-EEG report. 61
24169439 2013
15
Clinical dissection of early onset absence epilepsy in children and prognostic implications. 61
24032425 2013
16
Early onset absence epilepsy with onset in the first year of life: a multicenter cohort study. 61
24099057 2013
17
The role of SLC2A1 in early onset and childhood absence epilepsies. 61
23306390 2013
18
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution. 61
23020086 2013
19
Early onset absence epilepsy: what changes using Panayiotopoulos's criteria? 61
23550934 2013
20
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. 61
23106342 2012
21
Early-onset absence epilepsy at eight months of age. 61
22258047 2011
22
A clinical and genetic study of 33 new cases with early-onset absence epilepsy. 61
21546213 2011
23
Milder phenotypes of glucose transporter type 1 deficiency syndrome. 61
21649651 2011
24
A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy. 61
21204805 2010
25
Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. 61
20574033 2010
26
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 61
19798636 2009
27
Paroxysmal tonic upgaze of childhood with co-existent absence epilepsy. 61
17884759 2007
28
Early-onset absence epilepsy: clinical and electroencephalographic features in three children. 61
16376505 2006
29
A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. 61
14504340 2003
30
Early-onset absence epilepsy and paroxysmal dyskinesia. 61
12366739 2002

Variations for Early Onset Absence Epilepsy

Expression for Early Onset Absence Epilepsy

Search GEO for disease gene expression data for Early Onset Absence Epilepsy.

Pathways for Early Onset Absence Epilepsy

Pathways related to Early Onset Absence Epilepsy according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 SCN1A KCNQ3 KCNQ2 CHRNB2 CHRNA4
2
Show member pathways
12.61 KCNQ3 KCNQ2 GABRG2 GABRB3 GABRA1 CHRNB2
3 12.29 SCN2A SCN1B SCN1A KCNQ2
4 11.91 GABRA1 CHRNB2 CHRNA4
5
Show member pathways
11.82 GABRG2 GABRB3 GABRA1
6
Show member pathways
11.75 SCN2A SCN1B SCN1A KCNQ3 KCNQ2
7
Show member pathways
11.52 CHRNB2 CHRNA4 CHRNA2
8
Show member pathways
11.46 SCN2A SCN1B SCN1A
9
Show member pathways
11.17 GABRG2 GABRB3 GABRA1
10 10.96 GABRG2 GABRB3 GABRA1 CHRNB2 CHRNA4
11
Show member pathways
10.75 GABRG2 GABRA1
12 10.73 GABRG2 GABRB3 GABRA1
13 10.5 SCN2A SCN1B SCN1A KCNQ3 KCNQ2

GO Terms for Early Onset Absence Epilepsy

Cellular components related to Early Onset Absence Epilepsy according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.38 SLC2A1 SCN2A SCN1B SCN1A KCNQ3 KCNQ2
2 plasma membrane GO:0005886 10.3 SLC2A1 SCN2A SCN1B SCN1A KCNQ3 KCNQ2
3 integral component of membrane GO:0016021 10.22 SLC2A1 SCN2A SCN1B SCN1A KCNQ3 KCNQ2
4 cell junction GO:0030054 10.03 GABRG2 GABRB3 GABRA1 CHRNB2 CHRNA4 CHRNA2
5 neuron projection GO:0043005 9.91 GABRG2 GABRB3 GABRA1 CHRNB2 CHRNA4 CHRNA2
6 axon GO:0030424 9.88 SCN2A SCN1B SCN1A GABRG2
7 synapse GO:0045202 9.81 SLC2A1 KCNQ3 KCNQ2 GABRG2 GABRB3 GABRA1
8 cytoplasmic vesicle membrane GO:0030659 9.76 GABRG2 GABRB3 GABRA1
9 postsynaptic membrane GO:0045211 9.73 GABRG2 GABRB3 GABRA1 CHRNB2 CHRNA4 CHRNA2
10 chloride channel complex GO:0034707 9.72 GABRG2 GABRB3 GABRA1
11 T-tubule GO:0030315 9.71 SCN2A SCN1B SCN1A
12 integral component of plasma membrane GO:0005887 9.7 SLC2A1 SCN2A SCN1B KCNQ3 KCNQ2 GABRG2
13 GABA-A receptor complex GO:1902711 9.69 GABRG2 GABRB3 GABRA1
14 axon initial segment GO:0043194 9.67 SCN1A KCNQ3 KCNQ2
15 intercalated disc GO:0014704 9.67 SLC2A1 SCN2A SCN1B SCN1A
16 voltage-gated sodium channel complex GO:0001518 9.65 SCN2A SCN1B SCN1A
17 acetylcholine-gated channel complex GO:0005892 9.63 CHRNB2 CHRNA4 CHRNA2
18 dendrite membrane GO:0032590 9.6 GABRG2 GABRA1
19 integral component of postsynaptic specialization membrane GO:0099060 9.59 GABRA1 CHRNB2
20 sodium channel complex GO:0034706 9.5 SCN2A SCN1B SCN1A
21 node of Ranvier GO:0033268 9.02 SCN2A SCN1B SCN1A KCNQ3 KCNQ2

Biological processes related to Early Onset Absence Epilepsy according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.97 SLC2A1 SCN2A SCN1A KCNQ3 KCNQ2
2 chemical synaptic transmission GO:0007268 9.92 KCNQ3 KCNQ2 GABRG2 GABRB3 GABRA1 CHRNB2
3 regulation of ion transmembrane transport GO:0034765 9.83 SCN2A SCN1B SCN1A KCNQ3 KCNQ2
4 response to hypoxia GO:0001666 9.81 SLC2A1 CHRNB2 CHRNA4
5 sodium ion transport GO:0006814 9.79 SCN2A SCN1B SCN1A
6 sodium ion transmembrane transport GO:0035725 9.77 SCN2A SCN1B SCN1A
7 regulation of postsynaptic membrane potential GO:0060078 9.77 GABRG2 GABRA1 CHRNB2 CHRNA4 CHRNA2
8 chloride transmembrane transport GO:1902476 9.76 GABRG2 GABRB3 GABRA1
9 chloride transport GO:0006821 9.74 GABRG2 GABRB3 GABRA1
10 nervous system process GO:0050877 9.73 GABRG2 GABRB3 GABRA1 CHRNB2 CHRNA4 CHRNA2
11 excitatory postsynaptic potential GO:0060079 9.72 CHRNB2 CHRNA4 CHRNA2
12 response to nicotine GO:0035094 9.7 CHRNB2 CHRNA4 CHRNA2
13 regulation of membrane potential GO:0042391 9.7 SCN1A GABRG2 GABRB3 GABRA1 CHRNB2 CHRNA4
14 ion transport GO:0006811 9.7 SCN2A SCN1B SCN1A KCNQ3 KCNQ2 GABRG2
15 gamma-aminobutyric acid signaling pathway GO:0007214 9.69 GABRG2 GABRB3 GABRA1
16 synaptic transmission, cholinergic GO:0007271 9.67 CHRNB2 CHRNA4 CHRNA2
17 membrane depolarization GO:0051899 9.65 SCN1B CHRNB2 CHRNA4
18 B cell activation GO:0042113 9.64 CHRNB2 CHRNA4
19 neuronal action potential GO:0019228 9.63 SCN2A SCN1A
20 regulation of dopamine secretion GO:0014059 9.63 CHRNB2 CHRNA4
21 inhibitory synapse assembly GO:1904862 9.63 GABRG2 GABRB3 GABRA1
22 action potential GO:0001508 9.62 SCN1A CHRNA4
23 membrane depolarization during action potential GO:0086010 9.61 SCN2A SCN1A
24 cardiac muscle cell action potential involved in contraction GO:0086002 9.61 SCN1B SCN1A
25 synaptic transmission, GABAergic GO:0051932 9.6 GABRG2 GABRA1
26 cellular response to histamine GO:0071420 9.58 GABRG2 GABRB3 GABRA1
27 neuronal action potential propagation GO:0019227 9.56 SCN1B SCN1A
28 behavioral response to nicotine GO:0035095 9.54 CHRNB2 CHRNA4
29 ion transmembrane transport GO:0034220 9.36 SCN2A SCN1B SCN1A KCNQ3 KCNQ2 GABRG2

Molecular functions related to Early Onset Absence Epilepsy according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.73 GABRG2 GABRB3 GABRA1 CHRNB2 CHRNA4 CHRNA2
2 voltage-gated ion channel activity GO:0005244 9.72 SCN2A SCN1B SCN1A KCNQ3 KCNQ2
3 chloride channel activity GO:0005254 9.7 GABRG2 GABRB3 GABRA1
4 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.69 GABRG2 GABRA1 CHRNB2
5 sodium channel activity GO:0005272 9.67 SCN2A SCN1B SCN1A
6 voltage-gated sodium channel activity GO:0005248 9.65 SCN2A SCN1B SCN1A
7 GABA-A receptor activity GO:0004890 9.63 GABRG2 GABRB3 GABRA1
8 neurotransmitter receptor activity GO:0030594 9.63 GABRG2 GABRB3 GABRA1 CHRNB2 CHRNA4 CHRNA2
9 acetylcholine-gated cation-selective channel activity GO:0022848 9.61 CHRNB2 CHRNA4 CHRNA2
10 ligand-gated ion channel activity GO:0015276 9.58 CHRNB2 CHRNA4
11 acetylcholine receptor activity GO:0015464 9.58 CHRNB2 CHRNA4 CHRNA2
12 delayed rectifier potassium channel activity GO:0005251 9.57 KCNQ3 KCNQ2
13 acetylcholine binding GO:0042166 9.56 CHRNB2 CHRNA4
14 benzodiazepine receptor activity GO:0008503 9.55 GABRG2 GABRA1
15 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.54 GABRG2 GABRA1
16 GABA-gated chloride ion channel activity GO:0022851 9.54 GABRG2 GABRB3 GABRA1
17 extracellular ligand-gated ion channel activity GO:0005230 9.43 GABRG2 GABRB3 GABRA1 CHRNB2 CHRNA4 CHRNA2
18 ion channel activity GO:0005216 9.32 SCN2A SCN1A KCNQ3 KCNQ2 GABRG2 GABRB3

Sources for Early Onset Absence Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....