MCID: CHL058
MIFTS: 22

Childhood Electroclinical Syndrome

Categories: Neuronal diseases

Aliases & Classifications for Childhood Electroclinical Syndrome

MalaCards integrated aliases for Childhood Electroclinical Syndrome:

Name: Childhood Electroclinical Syndrome 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050704

Summaries for Childhood Electroclinical Syndrome

Disease Ontology : 12 An electroclinical syndrome with onset in childhood between one and 12 years of age.

MalaCards based summary : Childhood Electroclinical Syndrome is related to early onset absence epilepsy and lennox-gastaut syndrome. An important gene associated with Childhood Electroclinical Syndrome is CACNA1H (Calcium Voltage-Gated Channel Subunit Alpha1 H), and among its related pathways/superpathways are Peptide ligand-binding receptors and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Related phenotypes are behavior/neurological and nervous system

Related Diseases for Childhood Electroclinical Syndrome

Diseases related to Childhood Electroclinical Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 early onset absence epilepsy 31.5 GJA8 SLC2A1
2 lennox-gastaut syndrome 30.4 GABRA1 GABRB3 GABRG2 POMC SCN1A SLC2A1
3 childhood absence epilepsy 29.2 CACNA1H EFHC1 GABRA1 GABRA5 GABRB3 GABRG2
4 myoclonic epilepsy of infancy 10.2 GABRG2 SCN1A
5 cataract 1, multiple types 10.2 GABRG2 GJA8
6 seizures, benign familial infantile, 3 10.1 GABRG2 SCN1A
7 epilepsy with generalized tonic-clonic seizures 10.1 CACNA1H EFHC1 SCN1A
8 epilepsy, nocturnal frontal lobe, 1 10.1 GABRG2 SCN1A
9 childhood disintegrative disease 10.0 GABRB3 POMC
10 juvenile absence epilepsy 9.9 CACNA1H EFHC1 GABRA1 GJA8
11 landau-kleffner syndrome 9.9 ELP4 GRIN2A POMC
12 infancy electroclinical syndrome 9.9 GABRG2 POMC SCN1A
13 angelman syndrome 9.8 GABRA5 GABRB3 GABRG2 NIPA2
14 epileptic encephalopathy, early infantile, 6 9.7 GABRA1 GABRB3 GABRG2 SCN1A WARS
15 benign epilepsy with centrotemporal spikes 9.6 ELP4 GABRG2 GRIN2A SLC2A1
16 epilepsy, idiopathic generalized 10 9.6 EFHC1 GABRA1 GABRB3 GABRG2 GJA8 SCN1A
17 alcohol dependence 9.6 GABRB3 GRIN2A POMC
18 prader-willi syndrome 9.5 GABRA5 GABRB3 NIPA2 POMC
19 adolescence-adult electroclinical syndrome 9.5 CACNA1H EFHC1 GABRA1 GABRB3 GABRG2 GJA8
20 epilepsy, idiopathic generalized 9.3 CACNA1H EFHC1 GABRA1 GABRG2 SCN1A SLC2A1
21 focal epilepsy 9.3 CACNA1H GABRA5 GABRG2 GRIN2A SCN1A SLC2A1
22 epilepsy 9.0 CACNA1H EFHC1 GABRA1 GABRB3 GABRG2 GRIN2A

Graphical network of the top 20 diseases related to Childhood Electroclinical Syndrome:



Diseases related to Childhood Electroclinical Syndrome

Symptoms & Phenotypes for Childhood Electroclinical Syndrome

MGI Mouse Phenotypes related to Childhood Electroclinical Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 CACNA1H EFHC1 GABRA1 GABRA5 GABRB3 GABRG2
2 nervous system MP:0003631 9.32 CACNA1H EFHC1 GABRA1 GABRA5 GABRB3 GABRG2

Drugs & Therapeutics for Childhood Electroclinical Syndrome

Search Clinical Trials , NIH Clinical Center for Childhood Electroclinical Syndrome

Genetic Tests for Childhood Electroclinical Syndrome

Anatomical Context for Childhood Electroclinical Syndrome

Publications for Childhood Electroclinical Syndrome

Variations for Childhood Electroclinical Syndrome

Expression for Childhood Electroclinical Syndrome

Search GEO for disease gene expression data for Childhood Electroclinical Syndrome.

Pathways for Childhood Electroclinical Syndrome

Pathways related to Childhood Electroclinical Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3 GRIN2A
2
Show member pathways
13.13 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3 NIPA2
3
Show member pathways
12.8 CACNA1H GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
4
Show member pathways
12.74 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3 GRIN2A
5
Show member pathways
12.28 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
6
Show member pathways
12.22 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
7
Show member pathways
12.2 GABRA1 GABRA5 GABRB3 GABRG2
8
Show member pathways
11.79 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
9
Show member pathways
10.98 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
10
Show member pathways
10.77 GABRA1 GABRG2
11 10.7 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3 GRIN2A
12 10.69 GABRA1 GABRA5 GABRB3 GABRG2

GO Terms for Childhood Electroclinical Syndrome

Cellular components related to Childhood Electroclinical Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.95 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3 GJA8
2 synapse GO:0045202 9.91 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3 GRIN2A
3 integral component of plasma membrane GO:0005887 9.91 CACNA1H GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
4 neuron projection GO:0043005 9.8 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3 GRIN2A
5 cytoplasmic vesicle membrane GO:0030659 9.7 GABRA1 GABRB3 GABRG2
6 postsynapse GO:0098794 9.69 GABRA1 GABRA5 GABRG2
7 GABA-ergic synapse GO:0098982 9.67 GABRA1 GABRA5 GABRB3 GABRG2
8 dendrite membrane GO:0032590 9.63 GABRA1 GABRA5 GABRG2
9 postsynaptic membrane GO:0045211 9.63 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3 GRIN2A
10 integral component of postsynaptic specialization membrane GO:0099060 9.54 GABRA1 GABRA5
11 chloride channel complex GO:0034707 9.35 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
12 GABA-A receptor complex GO:1902711 9.02 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
13 integral component of membrane GO:0016021 10.24 CACNA1H GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
14 plasma membrane GO:0005886 10.22 CACNA1H GABRA1 GABRA5 GABRB3 GABRG2 GABRR3

Biological processes related to Childhood Electroclinical Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.91 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3 GRIN2A
2 ion transport GO:0006811 9.91 CACNA1H GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
3 chloride transmembrane transport GO:1902476 9.8 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
4 regulation of postsynaptic membrane potential GO:0060078 9.78 GABRA1 GABRA5 GABRG2 GRIN2A
5 chloride transport GO:0006821 9.77 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
6 nervous system process GO:0050877 9.72 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
7 synaptic transmission, GABAergic GO:0051932 9.67 GABRA1 GABRA5 GABRG2
8 cellular response to histamine GO:0071420 9.63 GABRA1 GABRB3 GABRG2
9 cochlea development GO:0090102 9.57 GABRA5 GABRB3
10 neuronal action potential GO:0019228 9.56 CACNA1H SCN1A
11 ion transmembrane transport GO:0034220 9.56 CACNA1H GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
12 regulation of neuron apoptotic process GO:0043523 9.55 GABRA5 GABRB3
13 gamma-aminobutyric acid signaling pathway GO:0007214 9.55 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
14 innervation GO:0060384 9.54 GABRA5 GABRB3
15 membrane depolarization during action potential GO:0086010 9.52 CACNA1H SCN1A
16 inner ear receptor cell development GO:0060119 9.51 GABRA5 GABRB3
17 regulation of membrane potential GO:0042391 9.23 CACNA1H GABRA1 GABRA5 GABRB3 GABRG2 GABRR3

Molecular functions related to Childhood Electroclinical Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.72 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
2 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.67 GABRA1 GABRA5 GABRB3 GABRG2
3 extracellular ligand-gated ion channel activity GO:0005230 9.65 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
4 benzodiazepine receptor activity GO:0008503 9.61 GABRA1 GABRA5 GABRG2
5 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.58 GABRA1 GABRA5 GABRG2
6 ion channel activity GO:0005216 9.5 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3 GRIN2A
7 GABA-gated chloride ion channel activity GO:0022851 9.46 GABRA1 GABRA5 GABRB3 GABRG2
8 GABA-A receptor activity GO:0004890 9.02 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3

Sources for Childhood Electroclinical Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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