MCID: CHL058
MIFTS: 21

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 32.2 SLC2A1 GJA8
2 lennox-gastaut syndrome 30.9 SLC2A1 SCN1A POMC GABRG2 GABRB3 GABRA1
3 childhood absence epilepsy 28.3 SLC2A1 NIPA2 GJA8 GABRG2 GABRB3 GABRA5
4 myoclonic epilepsy of infancy 10.5 SCN1A GABRG2
5 cataract 1, multiple types 10.3 GJA8 GABRG2
6 epilepsy with generalized tonic-clonic seizures 10.3 SCN1A EFHC1 CACNA1H
7 childhood disintegrative disease 10.2 POMC GABRB3
8 seizures, benign familial infantile, 3 10.2 SCN1A GABRG2
9 familial hyperaldosteronism 10.2 CLCN2 CACNA1H
10 infancy electroclinical syndrome 10.1 SCN1A POMC GABRG2
11 epileptic encephalopathy, early infantile, 6 10.1 SCN1A GABRG2 GABRB3 GABRA1
12 epilepsy, nocturnal frontal lobe, 1 10.0 SCN1A GABRG2
13 landau-kleffner syndrome 10.0 POMC GRIN2A ELP4
14 benign epilepsy with centrotemporal spikes 9.9 SLC2A1 GRIN2A GABRG2 ELP4
15 juvenile absence epilepsy 9.7 GJA8 GABRA1 EFHC1 CLCN2 CACNA1H
16 epilepsy, idiopathic generalized 10 9.2 SCN1A GJA8 GABRG2 GABRB3 GABRA1 EFHC1
17 epilepsy, idiopathic generalized 9.2 SLC2A1 SCN1A GABRG2 GABRA1 EFHC1 CLCN2
18 focal epilepsy 9.2 SLC2A1 SCN1A GRIN2A GABRG2 GABRA5 CACNA1H
19 angelman syndrome 9.2 NIPA2 GABRG2 GABRB3 GABRA5
20 adolescence-adult electroclinical syndrome 9.1 SCN1A GJA8 GABRG2 GABRB3 GABRA1 EFHC1
21 prader-willi syndrome 8.9 POMC NIPA2 GABRB3 GABRA5
22 epilepsy 8.7 SLC2A1 SCN1A GRIN2A GABRG2 GABRB3 GABRA1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 CACNA1H CACNG2 CLCN2 EFHC1 GABRA1 GABRA5
2 nervous system MP:0003631 9.4 CACNA1H CACNG2 CLCN2 EFHC1 GABRA1 GABRA5

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 POMC GRIN2A GABRR3 GABRG2 GABRB3 GABRA5
2
Show member pathways
13.16 SLC2A1 NIPA2 GABRR3 GABRG2 GABRB3 GABRA5
3
Show member pathways
12.84 GABRR3 GABRG2 GABRB3 GABRA5 GABRA1 CACNG2
4
Show member pathways
12.79 SCN1A POMC GJA8 CACNG2 CACNA1H
5
Show member pathways
12.76 GRIN2A GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
6
Show member pathways
12.62 SLC2A1 POMC CACNG2 CACNA1H
7
Show member pathways
12.37 GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
8 12.33 SCN1A POMC GRIN2A CACNG2
9
Show member pathways
12.29 GABRR3 GABRG2 GABRB3 GABRA5 GABRA1 CLCN2
10
Show member pathways
12.2 GABRG2 GABRB3 GABRA5 GABRA1
11
Show member pathways
11.79 GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
12
Show member pathways
10.98 GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
13
Show member pathways
10.77 GABRG2 GABRA1
14 10.7 GRIN2A GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
15 10.69 GABRG2 GABRB3 GABRA5 GABRA1

GO Terms for Childhood Electroclinical Syndrome

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.97 GRIN2A GJA8 GABRR3 GABRG2 GABRB3 GABRA5
2 synapse GO:0045202 9.95 GRIN2A GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
3 integral component of plasma membrane GO:0005887 9.85 SLC2A1 GRIN2A GJA8 GABRR3 GABRG2 GABRB3
4 postsynaptic membrane GO:0045211 9.8 GRIN2A GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
5 neuron projection GO:0043005 9.8 GRIN2A GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
6 GABA-ergic synapse GO:0098982 9.73 GABRG2 GABRB3 GABRA5 GABRA1
7 cytoplasmic vesicle membrane GO:0030659 9.72 GABRG2 GABRB3 GABRA1
8 postsynapse GO:0098794 9.69 GABRG2 GABRA5 GABRA1
9 dendrite membrane GO:0032590 9.65 GABRG2 GABRA5 GABRA1
10 voltage-gated calcium channel complex GO:0005891 9.57 CACNG2 CACNA1H
11 integral component of postsynaptic specialization membrane GO:0099060 9.56 GABRA5 GABRA1
12 postsynaptic density membrane GO:0098839 9.52 GRIN2A CACNG2
13 GABA-A receptor complex GO:1902711 9.35 GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
14 chloride channel complex GO:0034707 9.1 GABRR3 GABRG2 GABRB3 GABRA5 GABRA1 CLCN2
15 membrane GO:0016020 10.35 SLC2A1 SCN1A NIPA2 GRIN2A GJA8 GABRR3
16 integral component of membrane GO:0016021 10.31 SLC2A1 SCN1A NIPA2 GRIN2A GJA8 GABRR3
17 plasma membrane GO:0005886 10.27 SLC2A1 SCN1A NIPA2 GRIN2A GJA8 GABRR3

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.93 SLC2A1 SCN1A GJA8 CLCN2 CACNA1H
2 chemical synaptic transmission GO:0007268 9.91 GRIN2A GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
3 chloride transmembrane transport GO:1902476 9.88 GABRR3 GABRG2 GABRB3 GABRA5 GABRA1 CLCN2
4 chloride transport GO:0006821 9.85 GABRR3 GABRG2 GABRB3 GABRA5 GABRA1 CLCN2
5 regulation of ion transmembrane transport GO:0034765 9.81 SCN1A CLCN2 CACNG2 CACNA1H
6 ion transmembrane transport GO:0034220 9.81 SCN1A GRIN2A GABRR3 GABRG2 GABRB3 GABRA5
7 regulation of postsynaptic membrane potential GO:0060078 9.78 GRIN2A GABRG2 GABRA5 GABRA1
8 calcium ion transport GO:0006816 9.76 GRIN2A CACNG2 CACNA1H
9 calcium ion transmembrane transport GO:0070588 9.73 GRIN2A CACNG2 CACNA1H
10 nervous system process GO:0050877 9.73 GABRR3 GABRG2 GABRB3 GABRA5 GABRA1 CACNG2
11 gamma-aminobutyric acid signaling pathway GO:0007214 9.72 GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
12 ion transport GO:0006811 9.7 SCN1A NIPA2 GRIN2A GABRR3 GABRG2 GABRB3
13 synaptic transmission, GABAergic GO:0051932 9.67 GABRG2 GABRA5 GABRA1
14 cellular response to histamine GO:0071420 9.63 GABRG2 GABRB3 GABRA1
15 neuronal action potential GO:0019228 9.6 SCN1A CACNA1H
16 cochlea development GO:0090102 9.59 GABRB3 GABRA5
17 regulation of neuron apoptotic process GO:0043523 9.58 GABRB3 GABRA5
18 innervation GO:0060384 9.57 GABRB3 GABRA5
19 membrane depolarization during action potential GO:0086010 9.55 SCN1A CACNA1H
20 inner ear receptor cell development GO:0060119 9.52 GABRB3 GABRA5
21 regulation of membrane potential GO:0042391 9.28 SCN1A GRIN2A GABRR3 GABRG2 GABRB3 GABRA5

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

# Name GO ID Score Top Affiliating Genes
1 extracellular ligand-gated ion channel activity GO:0005230 9.72 GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
2 ion channel activity GO:0005216 9.7 SCN1A GRIN2A GABRR3 GABRG2 GABRB3 GABRA5
3 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.67 GABRG2 GABRB3 GABRA5 GABRA1
4 calcium channel activity GO:0005262 9.63 GRIN2A CACNG2 CACNA1H
5 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.61 GABRG2 GABRA5 GABRA1
6 benzodiazepine receptor activity GO:0008503 9.58 GABRG2 GABRA5 GABRA1
7 GABA-gated chloride ion channel activity GO:0022851 9.56 GABRG2 GABRB3 GABRA5 GABRA1
8 chloride channel activity GO:0005254 9.43 GABRR3 GABRG2 GABRB3 GABRA5 GABRA1 CLCN2
9 GABA-A receptor activity GO:0004890 9.02 GABRR3 GABRG2 GABRB3 GABRA5 GABRA1

Sources for Childhood Electroclinical Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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