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 childhood absence epilepsy. An important gene associated with Childhood Electroclinical Syndrome is CACNA1H (Calcium Voltage-Gated Channel Subunit Alpha1 H), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Sweet Taste Signaling. 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 29)
# Related Disease Score Top Affiliating Genes
1 early onset absence epilepsy 32.0 GJA8 SLC2A1
2 childhood absence epilepsy 26.2 CACNA1H CLCN2 EFHC1 GABRA1 GABRA5 GABRB3
3 epileptic encephalopathy, early infantile, 1 10.6 KCNQ2 TBC1D24
4 benign familial neonatal epilepsy 10.5 KCNQ2 TBC1D24
5 seizures, benign familial infantile, 3 10.5 GABRG2 KCNQ2
6 cataract 1, multiple types 10.4 GABRG2 GJA8
7 neonatal period electroclinical syndrome 10.4 KCNQ2 TBC1D24
8 epilepsy with generalized tonic-clonic seizures 10.4 EFHC1 TBC1D24
9 epilepsy, nocturnal frontal lobe, 1 10.4 GABRG2 KCNQ2
10 childhood disintegrative disease 10.1 GABRB3 POMC
11 unverricht-lundborg syndrome 10.1 EFHC1 TBC1D24
12 angelman syndrome 10.0 GABRA5 GABRB3 GABRG2
13 reflex epilepsy 10.0 TBC1D24 WARS
14 west syndrome 9.9 KCNQ2 POMC TBC1D24
15 agenesis of the corpus callosum with peripheral neuropathy 9.9 CLCN2 TBC1D24
16 infancy electroclinical syndrome 9.7 GABRG2 KCNQ2 POMC TBC1D24
17 landau-kleffner syndrome 9.5 ELP4 GRIN2A POMC TBC1D24
18 generalized epilepsy with febrile seizures plus 9.5 EFHC1 GABRA1 GABRG2 KCNQ2 TBC1D24
19 benign epilepsy with centrotemporal spikes 9.2 ELP4 GABRG2 GRIN2A KCNQ2 SLC2A1 TBC1D24
20 juvenile absence epilepsy 9.1 CACNA1H CLCN2 EFHC1 GABRA1 GJA8
21 trehalase deficiency 9.1 GRIN2A KCNQ2 POMC SLC2A1 TBC1D24
22 focal epilepsy 9.0 CACNA1H GABRA5 GABRG2 GRIN2A SLC2A1 TBC1D24
23 prader-willi syndrome 8.9 GABRA5 GABRB3 POMC
24 lennox-gastaut syndrome 8.9 GABRA1 GABRB3 KCNQ2 POMC SLC2A1 TBC1D24
25 epileptic encephalopathy, early infantile, 6 8.7 GABRA1 GABRB3 GABRG2 KCNQ2 TBC1D24 WARS
26 adolescence-adult electroclinical syndrome 8.5 CLCN2 EFHC1 GABRA1 GABRB3 GABRG2 GJA8
27 epilepsy, idiopathic generalized 10 8.5 CLCN2 EFHC1 GABRA1 GABRB3 GABRG2 GJA8
28 epilepsy 8.1 CACNA1H EFHC1 GABRA1 GABRB3 GABRG2 GRIN2A
29 epilepsy, idiopathic generalized 7.5 CACNA1H CLCN2 EFHC1 GABRA1 GABRG2 KCNQ2

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 9.7 CACNA1H CLCN2 EFHC1 GABRA1 GABRA5 GABRB3
2 nervous system MP:0003631 9.36 GABRG2 GRIN2A KCNQ2 POMC SLC2A1 CACNA1H

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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.1 CLCN2 GABRA1 GABRA5 GABRB3 GABRG2 SLC2A1
2
Show member pathways
12.76 CACNA1H GABRA1 GABRA5 GABRB3 GABRG2
3
Show member pathways
12.7 GABRA1 GABRA5 GABRB3 GABRG2 GRIN2A KCNQ2
4
Show member pathways
12.25 GABRA1 GABRA5 GABRB3 GABRG2
5
Show member pathways
12.15 CLCN2 GABRA1 GABRA5 GABRB3 GABRG2
6
Show member pathways
12.13 GABRA1 GABRA5 GABRB3 GABRG2
7
Show member pathways
11.76 GABRA1 GABRA5 GABRB3 GABRG2
8
Show member pathways
11.08 GABRA1 GABRA5 GABRB3 GABRG2
9
Show member pathways
10.71 GABRA1 GABRG2
10 10.62 GABRA1 GABRA5 GABRB3 GABRG2 GRIN2A
11 10.49 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 11)
# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.85 GABRA1 GABRA5 GABRB3 GABRG2 GRIN2A
2 integral component of plasma membrane GO:0005887 9.85 CACNA1H CLCN2 GABRA1 GABRA5 GABRB3 GABRG2
3 neuron projection GO:0043005 9.8 GABRA1 GABRA5 GABRB3 GABRG2 GRIN2A
4 cell junction GO:0030054 9.8 GABRA1 GABRA5 GABRB3 GABRG2 GJA8 GRIN2A
5 postsynaptic membrane GO:0045211 9.72 GABRA1 GABRA5 GABRB3 GABRG2 GRIN2A
6 cytoplasmic vesicle membrane GO:0030659 9.67 GABRA1 GABRB3 GABRG2
7 postsynapse GO:0098794 9.61 GABRA1 GABRA5 GABRG2
8 dendrite membrane GO:0032590 9.54 GABRA1 GABRA5 GABRG2
9 GABA-A receptor complex GO:1902711 9.26 GABRA1 GABRA5 GABRB3 GABRG2
10 chloride channel complex GO:0034707 9.02 CLCN2 GABRA1 GABRA5 GABRB3 GABRG2
11 plasma membrane GO:0005886 10.22 CACNA1H CLCN2 GABRA1 GABRA5 GABRB3 GABRG2

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.92 CACNA1H CLCN2 GJA8 KCNQ2 SLC2A1
2 chemical synaptic transmission GO:0007268 9.91 GABRA1 GABRA5 GABRB3 GABRG2 GRIN2A KCNQ2
3 ion transport GO:0006811 9.86 CACNA1H CLCN2 GABRA1 GABRA5 GABRB3 GABRG2
4 nervous system process GO:0050877 9.78 GABRA1 GABRA5 GABRB3 GABRG2
5 regulation of ion transmembrane transport GO:0034765 9.73 CACNA1H CLCN2 KCNQ2
6 chloride transmembrane transport GO:1902476 9.72 CLCN2 GABRA1 GABRA5 GABRB3 GABRG2
7 regulation of postsynaptic membrane potential GO:0060078 9.71 GABRA1 GABRA5 GABRG2 GRIN2A
8 synaptic transmission, GABAergic GO:0051932 9.67 GABRA1 GABRA5 GABRG2
9 gamma-aminobutyric acid signaling pathway GO:0007214 9.67 GABRA1 GABRA5 GABRB3 GABRG2
10 cellular response to histamine GO:0071420 9.63 GABRA1 GABRB3 GABRG2
11 cochlea development GO:0090102 9.57 GABRA5 GABRB3
12 regulation of neuron apoptotic process GO:0043523 9.55 GABRA5 GABRB3
13 chloride transport GO:0006821 9.55 CLCN2 GABRA1 GABRA5 GABRB3 GABRG2
14 innervation GO:0060384 9.54 GABRA5 GABRB3
15 inner ear receptor cell development GO:0060119 9.51 GABRA5 GABRB3
16 regulation of membrane potential GO:0042391 9.43 CACNA1H GABRA1 GABRA5 GABRB3 GABRG2 GRIN2A
17 ion transmembrane transport GO:0034220 9.23 CACNA1H CLCN2 GABRA1 GABRA5 GABRB3 GABRG2

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

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.65 GABRA1 GABRA5 GABRB3 GABRG2 GRIN2A
2 extracellular ligand-gated ion channel activity GO:0005230 9.62 GABRA1 GABRA5 GABRB3 GABRG2
3 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.61 GABRA1 GABRA5 GABRG2
4 benzodiazepine receptor activity GO:0008503 9.58 GABRA1 GABRA5 GABRG2
5 chloride channel activity GO:0005254 9.55 CLCN2 GABRA1 GABRA5 GABRB3 GABRG2
6 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.54 GABRA1 GABRA5 GABRG2
7 GABA-A receptor activity GO:0004890 9.26 GABRA1 GABRA5 GABRB3 GABRG2
8 GABA-gated chloride ion channel activity GO:0022851 8.92 GABRA1 GABRA5 GABRB3 GABRG2

Sources for Childhood Electroclinical Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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