MCID: CHL058
MIFTS: 25

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 GABRG2 (Gamma-Aminobutyric Acid Type A Receptor Subunit Gamma2), and among its related pathways/superpathways are Developmental Biology and G-Beta Gamma Signaling. Affiliated tissues include heart and temporal lobe, and related phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and behavior/neurological

Related Diseases for Childhood Electroclinical Syndrome

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

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 early onset absence epilepsy 31.6 SCN2A SCN1A KCNQ3 KCNQ2 GJA8 GABRG2
2 lennox-gastaut syndrome 30.4 STXBP1 SCN8A SCN2A SCN1A PCDH19 KCNQ3
3 childhood absence epilepsy 29.8 STXBP1 SCN8A SCN2A SCN1A PCDH19 KCNQ3
4 febrile infection-related epilepsy syndrome 10.6 SCN1A PCDH19
5 genetic epilepsy with febrile seizures plus 10.5 SCN2A SCN1A
6 familial febrile seizures 10.5 SCN1A GABRG2
7 sporadic hemiplegic migraine 10.5 SCN1A CACNA1A
8 myoclonic epilepsy of infancy 10.5 SCN8A SCN1A GABRG2
9 high pressure neurological syndrome 10.5 GRIN2A CACNA1H
10 familial or sporadic hemiplegic migraine 10.5 SCN1A CACNA1A
11 epileptic encephalopathy, early infantile, 13 10.5 SCN8A SCN1A
12 epilepsy, familial temporal lobe, 5 10.5 SCN1A GABRG2 GABRD
13 kcnq2-related disorders 10.5 KCNQ3 KCNQ2
14 seizures, benign familial infantile, 3 10.5 SCN2A KCNQ2
15 hereditary episodic ataxia 10.5 SCN2A CACNA1A
16 verbal auditory agnosia 10.5 GRIN2A GABRG2 ELP4
17 reflex epilepsy 10.5 SCN1A GABRG2
18 neuropathy, hereditary sensory and autonomic, type vii 10.5 SCN2A SCN1A
19 ohtahara syndrome 10.5 STXBP1 SCN2A
20 epileptic encephalopathy, childhood-onset 10.5 PCDH19 KCNQ2 GABRA1
21 low-grade astrocytoma 10.5 SCN8A SCN2A SCN1A
22 spinocerebellar ataxia 6 10.5 SCN1A CACNA1H CACNA1A
23 episodic ataxia, type 2 10.5 SCN1A CACNA1H CACNA1A
24 seizures, benign familial infantile, 5 10.5 SCN8A KCNQ3
25 spinocerebellar ataxia 27 10.4 SCN8A SCN1A CACNA1A
26 malignant migrating partial seizures of infancy 10.4 SCN2A SCN1A
27 hyperekplexia 10.4 GABRG2 GABRB3 GABRA1
28 seizures, benign familial neonatal, 2 10.4 KCNQ3 KCNQ2
29 epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta 10.4 SCN8A SCN1A
30 unverricht-lundborg syndrome 10.4 KCNQ3 GABRG2 EFHC1
31 central nervous system origin vertigo 10.4 SCN2A CACNA1A
32 paroxysmal dyskinesia 10.4 SCN8A PCDH19
33 progressive familial heart block, type ia 10.4 SCN8A SCN1A
34 febrile seizures 10.4 SCN2A SCN1A GABRG2 GABRD
35 epilepsy, nocturnal frontal lobe, 1 10.4 SCN1A KCNQ3 KCNQ2 GABRG2
36 epileptic encephalopathy, early infantile, 1 10.4 SCN1A KCNQ2 GABRB3 CACNA1A
37 episodic ataxia, type 1 10.3 KCNQ3 KCNQ2 CACNA1A
38 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.3 KCNQ3 KCNQ2
39 cataract 1, multiple types 10.3 GJA8 GABRG2
40 angelman syndrome 10.3 GABRG2 GABRB3 GABRA1 CDKL5
41 encephalopathy 10.3 STXBP1 SCN1A PCDH19 CDKL5
42 seizure disorder 10.3 SCN2A SCN1A KCNQ2 CDKL5
43 status epilepticus 10.3 SCN1A PCDH19 KCNQ2 CACNA1A
44 undetermined early-onset epileptic encephalopathy 10.3 STXBP1 SCN8A GABRG2 CACNA1A
45 epilepsy with generalized tonic-clonic seizures 10.3 SCN2A SCN1A GJA8 GABRG2 EFHC1
46 epileptic encephalopathy, early infantile, 7 10.3 STXBP1 SCN8A KCNQ3 KCNQ2
47 coffin-siris syndrome 4 10.2 SCN8A SCN2A
48 partial motor epilepsy 10.2 STXBP1 SCN2A SCN1A KCNQ2 CACNA1G
49 alacrima, achalasia, and mental retardation syndrome 10.2 STXBP1 SCN1A GRIN2A CACNA1A
50 cataract 14, multiple types 10.2 GJA8 GABRG2

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



Diseases related to Childhood Electroclinical Syndrome

Symptoms & Phenotypes for Childhood Electroclinical Syndrome

GenomeRNAi Phenotypes related to Childhood Electroclinical Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.23 CACNA1G EFHC1 GABRA1 GRIN2A KCNQ2 SCN1A

MGI Mouse Phenotypes related to Childhood Electroclinical Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 CACNA1A CACNA1G CACNA1H CDKL5 EFHC1 GABRA1
2 growth/size/body region MP:0005378 9.93 CACNA1A CACNA1G CACNA1H GABRA1 GABRB3 GABRG2
3 nervous system MP:0003631 9.89 CACNA1A CACNA1G CACNA1H CDKL5 EFHC1 GABRA1
4 reproductive system MP:0005389 9.28 CACNA1A GABRA1 GABRB3 GABRD GABRG2 GJA8

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

MalaCards organs/tissues related to Childhood Electroclinical Syndrome:

40
Heart, Temporal Lobe

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 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.38 SCN8A SCN2A SCN1A KCNQ3 KCNQ2 GRIN2A
2
Show member pathways
12.93 SCN8A SCN2A SCN1A GJA8 CACNA1I CACNA1H
3
Show member pathways
12.91 GABRG2 GABRD GABRB3 GABRA1 CDKL5 CACNA1I
4
Show member pathways
12.86 STXBP1 KCNQ3 KCNQ2 GRIN2A GABRG2 GABRB3
5
Show member pathways
12.59 SCN1A KCNQ3 KCNQ2 GRIN2A CACNA1I CACNA1H
6 12.49 STXBP1 SCN8A SCN2A SCN1A KCNQ2 GRIN2A
7
Show member pathways
12.47 GABRG2 GABRD GABRB3 GABRA1 CACNA1A
8
Show member pathways
12.33 GABRG2 GABRD GABRB3 GABRA1
9 12.25 KCNQ3 KCNQ2 GRIN2A CACNA1A
10
Show member pathways
12.21 CACNA1I CACNA1H CACNA1G CACNA1A
11
Show member pathways
12.19 GRIN2A CACNA1I CACNA1H CACNA1G CACNA1A
12 12 CACNA1I CACNA1H CACNA1G CACNA1A
13
Show member pathways
11.94 CACNA1I CACNA1H CACNA1G CACNA1A
14
Show member pathways
11.93 SCN8A SCN2A SCN1A KCNQ3 KCNQ2
15
Show member pathways
11.89 SCN2A GABRA1 CACNA1A
16
Show member pathways
11.65 SCN8A SCN2A SCN1A
17 11.61 CACNA1I CACNA1H CACNA1G CACNA1A
18 11.56 CACNA1I CACNA1H CACNA1G
19
Show member pathways
11.37 GABRG2 GABRB3 GABRA1
20 11.28 CACNA1I CACNA1H CACNA1G
21 11.2 KCNQ3 KCNQ2 CACNA1I CACNA1H CACNA1G CACNA1A
22 11.03 SCN8A SCN2A SCN1A KCNQ3 KCNQ2
23
Show member pathways
10.87 GABRG2 GABRA1
24 10.79 GABRG2 GABRD GABRB3 GABRA1
25 10.7 GRIN2A GABRG2 GABRD GABRB3 GABRA1 CACNA1A

GO Terms for Childhood Electroclinical Syndrome

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.45 STXBP1 SCN8A SCN2A SCN1A PCDH19 KCNQ3
2 integral component of membrane GO:0016021 10.34 SCN8A SCN2A SCN1A PCDH19 KCNQ3 KCNQ2
3 plasma membrane GO:0005886 10.19 STXBP1 SCN8A SCN2A SCN1A PCDH19 KCNQ3
4 integral component of plasma membrane GO:0005887 10.11 SCN2A PCDH19 KCNQ3 KCNQ2 GRIN2A GJA8
5 cell junction GO:0030054 10.09 SCN8A GRIN2A GJA8 GABRG2 GABRD GABRB3
6 neuron projection GO:0043005 9.97 GRIN2A GABRG2 GABRD GABRB3 GABRA1
7 axon GO:0030424 9.97 STXBP1 SCN8A SCN2A SCN1A GABRG2
8 glutamatergic synapse GO:0098978 9.97 STXBP1 SCN2A GRIN2A GABRD CDKL5 CACNA1A
9 postsynaptic membrane GO:0045211 9.93 GRIN2A GABRG2 GABRD GABRB3 GABRA1
10 cytoplasmic vesicle membrane GO:0030659 9.86 GRIN2A GABRG2 GABRB3 GABRA1
11 synapse GO:0045202 9.85 KCNQ3 KCNQ2 GRIN2A GABRG2 GABRD GABRB3
12 GABA-ergic synapse GO:0098982 9.81 GABRG2 GABRD GABRB3 GABRA1
13 postsynapse GO:0098794 9.77 STXBP1 GABRG2 GABRA1
14 chloride channel complex GO:0034707 9.76 GABRG2 GABRD GABRB3 GABRA1
15 voltage-gated calcium channel complex GO:0005891 9.71 CACNA1I CACNA1H CACNA1G CACNA1A
16 GABA-A receptor complex GO:1902711 9.65 GABRG2 GABRB3 GABRA1
17 axon initial segment GO:0043194 9.62 SCN8A SCN1A KCNQ3 KCNQ2
18 sodium channel complex GO:0034706 9.58 SCN2A SCN1A
19 node of Ranvier GO:0033268 9.35 SCN8A SCN2A SCN1A KCNQ3 KCNQ2
20 voltage-gated sodium channel complex GO:0001518 9.1 SCN8A SCN2A SCN1A CACNA1I CACNA1H CACNA1G

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.13 SCN8A SCN2A SCN1A KCNQ3 KCNQ2 GJA8
2 chemical synaptic transmission GO:0007268 10.06 KCNQ3 KCNQ2 GRIN2A GABRG2 GABRD GABRB3
3 calcium ion transport GO:0006816 9.97 GRIN2A CACNA1I CACNA1H CACNA1G CACNA1A
4 calcium ion transmembrane transport GO:0070588 9.96 GRIN2A CACNA1I CACNA1H CACNA1G CACNA1A
5 sodium ion transmembrane transport GO:0035725 9.93 SCN8A SCN2A SCN1A CACNA1I CACNA1H CACNA1G
6 regulation of ion transmembrane transport GO:0034765 9.91 SCN8A SCN2A SCN1A KCNQ3 KCNQ2 CACNA1I
7 chloride transmembrane transport GO:1902476 9.89 GABRG2 GABRD GABRB3 GABRA1
8 chloride transport GO:0006821 9.88 GABRG2 GABRD GABRB3 GABRA1
9 regulation of postsynaptic membrane potential GO:0060078 9.88 GRIN2A GABRG2 GABRD GABRA1
10 nervous system process GO:0050877 9.88 GABRG2 GABRD GABRB3 GABRA1 CACNA1A
11 neuronal action potential GO:0019228 9.85 SCN8A SCN2A SCN1A CACNA1I CACNA1H CACNA1G
12 gamma-aminobutyric acid signaling pathway GO:0007214 9.83 GABRG2 GABRB3 GABRA1 CACNA1A
13 calcium ion import GO:0070509 9.81 CACNA1I CACNA1H CACNA1G CACNA1A
14 regulation of membrane potential GO:0042391 9.81 SCN1A GRIN2A GABRG2 GABRD GABRB3 GABRA1
15 positive regulation of calcium ion-dependent exocytosis GO:0045956 9.8 STXBP1 CACNA1I CACNA1H CACNA1G
16 membrane depolarization during action potential GO:0086010 9.8 SCN8A SCN2A SCN1A CACNA1I CACNA1H CACNA1G
17 sodium ion transport GO:0006814 9.79 SCN8A SCN2A SCN1A
18 inhibitory synapse assembly GO:1904862 9.72 GABRG2 GABRB3 GABRA1
19 cellular response to histamine GO:0071420 9.71 GABRG2 GABRB3 GABRA1
20 ion transmembrane transport GO:0034220 9.7 SCN8A SCN2A SCN1A GRIN2A GABRG2 GABRD
21 cardiac muscle cell action potential involved in contraction GO:0086002 9.61 SCN1A CACNA1G
22 synaptic transmission, GABAergic GO:0051932 9.61 GABRG2 GABRA1
23 sleep GO:0030431 9.6 GRIN2A CACNA1I
24 ion transport GO:0006811 9.47 SCN8A SCN2A SCN1A KCNQ3 KCNQ2 GRIN2A

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.8 GABRG2 GABRD GABRB3 GABRA1
2 calcium channel activity GO:0005262 9.8 GRIN2A CACNA1I CACNA1H CACNA1G CACNA1A
3 extracellular ligand-gated ion channel activity GO:0005230 9.76 GABRG2 GABRD GABRB3 GABRA1
4 voltage-gated calcium channel activity GO:0005245 9.73 CACNA1I CACNA1H CACNA1G CACNA1A
5 sodium channel activity GO:0005272 9.69 SCN8A SCN2A SCN1A
6 GABA-gated chloride ion channel activity GO:0022851 9.65 GABRG2 GABRB3 GABRA1
7 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.65 GRIN2A GABRG2 GABRD GABRB3 GABRA1
8 voltage-gated sodium channel activity GO:0005248 9.63 SCN8A SCN2A SCN1A CACNA1I CACNA1H CACNA1G
9 GABA-A receptor activity GO:0004890 9.62 GABRG2 GABRD GABRB3 GABRA1
10 voltage-gated ion channel activity GO:0005244 9.61 SCN8A SCN2A SCN1A KCNQ3 KCNQ2 CACNA1I
11 benzodiazepine receptor activity GO:0008503 9.54 GABRG2 GABRA1
12 low voltage-gated calcium channel activity GO:0008332 9.54 CACNA1I CACNA1H CACNA1G
13 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.52 GABRG2 GABRA1
14 ion channel activity GO:0005216 9.4 SCN8A SCN2A SCN1A GRIN2A GABRG2 GABRD

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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