MCID: CHL058
MIFTS: 24

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 SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Developmental Biology. 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 97)
# Related Disease Score Top Affiliating Genes
1 early onset absence epilepsy 31.5 SCN2A SCN1B SCN1A KCNQ3 KCNQ2 GJA8
2 lennox-gastaut syndrome 30.8 STXBP1 SCN8A SCN2A SCN1B SCN1A PCDH19
3 childhood absence epilepsy 29.7 STXBP1 SCN8A SCN2A SCN1B SCN1A PCDH19
4 febrile infection-related epilepsy syndrome 10.6 SCN1A PCDH19
5 genetic epilepsy with febrile seizures plus 10.5 SCN2A SCN1A
6 sporadic hemiplegic migraine 10.5 SCN1A CACNA1A
7 myoclonic epilepsy of infancy 10.5 SCN8A SCN1A GABRG2
8 encephalopathy 10.5 STXBP1 SCN1A PCDH19
9 kcnq2-related disorders 10.5 KCNQ3 KCNQ2
10 seizures, benign familial infantile, 3 10.5 SCN2A KCNQ2
11 febrile seizures, familial, 11 10.5 SCN1A GABRG2 GABRD
12 seizures, benign familial neonatal, 2 10.5 KCNQ3 KCNQ2
13 familial or sporadic hemiplegic migraine 10.5 SCN1A CACNA1A
14 ohtahara syndrome 10.5 STXBP1 SCN2A
15 reflex epilepsy 10.5 SCN1A GABRG2
16 neuropathy, hereditary sensory and autonomic, type vii 10.5 SCN2A SCN1A
17 febrile seizures, familial, 6 10.5 SCN1B SCN1A GABRG2
18 generalized epilepsy with febrile seizures plus, type 1 10.5 SCN1B SCN1A GABRG2
19 seizure disorder 10.5 SCN2A SCN1A KCNQ2
20 paroxysmal dyskinesia 10.5 SCN8A PCDH19
21 seizures, benign familial infantile, 5 10.5 SCN8A KCNQ3
22 malignant migrating partial seizures of infancy 10.5 SCN2A SCN1A
23 hereditary episodic ataxia 10.5 SCN2A CACNA1A
24 episodic pain syndrome, familial, 2 10.5 SCN2A SCN1A
25 low-grade astrocytoma 10.5 SCN8A SCN2A SCN1A
26 epileptic encephalopathy, early infantile, 14 10.5 SCN8A SCN2A SCN1A
27 migraine, familial hemiplegic, 1 10.4 SCN1A CACNA1H CACNA1A
28 episodic ataxia, type 5 10.4 SCN1A CACNA1A
29 cerebellar ataxia type 42 10.4 CACNA1G CACNA1A
30 central nervous system origin vertigo 10.4 SCN2A CACNA1A
31 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.4 KCNQ3 KCNQ2
32 migraine, familial hemiplegic, 3 10.4 SCN2A SCN1A CACNA1A
33 paramyotonia congenita of von eulenburg 10.4 SCN2A SCN1B SCN1A
34 cataract 1, multiple types 10.4 GJA8 GABRG2
35 progressive myoclonus epilepsy 4 10.4 CACNA1I CACNA1H
36 epileptic encephalopathy, early infantile, 7 10.4 KCNQ3 KCNQ2
37 unverricht-lundborg syndrome 10.4 SCN1B KCNQ3 EFHC1
38 epileptic encephalopathy, early infantile, 1 10.4 SCN1A KCNQ2 GABRB3 CACNA1A
39 verbal auditory agnosia 10.4 SCN1B GRIN2A GABRG2 ELP4
40 epileptic encephalopathy, early infantile, 9 10.4 STXBP1 SCN1A PCDH19 KCNQ2
41 generalized epilepsy with febrile seizures plus, type 2 10.4 SCN1B SCN1A GABRG2 GABRD
42 febrile seizures, familial, 5 10.4 SCN2A SCN1B SCN1A GABRG2
43 partial motor epilepsy 10.4 STXBP1 SCN2A SCN1A KCNQ2
44 generalized epilepsy with febrile seizures plus, type 7 10.4 SCN1B SCN1A GABRG2 GABRD
45 febrile seizures, familial, 8 10.4 SCN1B SCN1A GABRG2 GABRD
46 epilepsy, familial temporal lobe, 5 10.4 SCN1B SCN1A GABRG2 GABRD
47 febrile seizures, familial, 4 10.4 SCN1B SCN1A GABRG2 GABRD
48 cataract 14, multiple types 10.3 GJA8 GABRG2
49 epileptic encephalopathy, early infantile, 13 10.3 SCN8A SCN2A SCN1B SCN1A
50 undetermined early-onset epileptic encephalopathy 10.3 STXBP1 SCN8A GABRG2 CACNA1A

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 EFHC1 GABRA1 GABRB3
2 growth/size/body region MP:0005378 9.97 CACNA1A CACNA1G CACNA1H GABRA1 GABRB3 GABRG2
3 nervous system MP:0003631 9.89 CACNA1A CACNA1G CACNA1H EFHC1 GABRA1 GABRB3
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

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 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.47 SCN8A SCN2A SCN1B SCN1A CACNA1I CACNA1H
2
Show member pathways
13.41 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2
3
Show member pathways
12.97 GABRG2 GABRD GABRB3 GABRA1 CACNA1I CACNA1H
4
Show member pathways
12.93 SCN8A SCN2A SCN1B SCN1A GJA8 CACNA1I
5
Show member pathways
12.91 STXBP1 KCNQ3 KCNQ2 GRIN2A GABRG2 GABRB3
6
Show member pathways
12.64 SCN1A KCNQ3 KCNQ2 GRIN2A CACNA1I CACNA1H
7
Show member pathways
12.57 SCN8A SCN2A SCN1B SCN1A GRIN2A
8 12.51 STXBP1 SCN8A SCN2A SCN1B SCN1A KCNQ2
9
Show member pathways
12.48 GABRG2 GABRD GABRB3 GABRA1 CACNA1A
10
Show member pathways
12.35 GABRG2 GABRD GABRB3 GABRA1
11 12.27 KCNQ3 KCNQ2 GRIN2A CACNA1A
12
Show member pathways
12.23 CACNA1I CACNA1H CACNA1G CACNA1A
13
Show member pathways
12.22 GRIN2A CACNA1I CACNA1H CACNA1G CACNA1A
14 12.01 CACNA1I CACNA1H CACNA1G CACNA1A
15
Show member pathways
11.95 CACNA1I CACNA1H CACNA1G CACNA1A
16
Show member pathways
11.9 SCN2A GABRA1 CACNA1A
17
Show member pathways
11.83 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2
18
Show member pathways
11.69 SCN8A SCN2A SCN1B SCN1A
19 11.62 CACNA1I CACNA1H CACNA1G CACNA1A
20 11.58 CACNA1I CACNA1H CACNA1G
21 11.52 SCN1B CACNA1H CACNA1G
22 11.4 KCNQ3 KCNQ2 CACNA1I CACNA1H CACNA1G CACNA1A
23
Show member pathways
11.38 GABRG2 GABRB3 GABRA1
24 11.29 CACNA1I CACNA1H CACNA1G
25 11.03 GRIN2A GABRG2 GABRD GABRB3 GABRA1 CACNA1A
26
Show member pathways
10.89 GABRG2 GABRA1
27 10.85 GABRG2 GABRD GABRB3 GABRA1
28 10.58 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2

GO Terms for Childhood Electroclinical Syndrome

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.49 STXBP1 SCN8A SCN2A SCN1B SCN1A PCDH19
2 integral component of membrane GO:0016021 10.36 SCN8A SCN2A SCN1B SCN1A PCDH19 KCNQ3
3 cell junction GO:0030054 10.11 SCN8A GRIN2A GJA8 GABRG2 GABRD GABRB3
4 synapse GO:0045202 10.11 KCNQ3 KCNQ2 GRIN2A GABRG2 GABRD GABRB3
5 plasma membrane GO:0005886 10.11 STXBP1 SCN8A SCN2A SCN1B SCN1A PCDH19
6 axon GO:0030424 10.04 STXBP1 SCN8A SCN2A SCN1B SCN1A GABRG2
7 integral component of plasma membrane GO:0005887 10.03 SCN2A SCN1B PCDH19 KCNQ3 KCNQ2 GRIN2A
8 glutamatergic synapse GO:0098978 9.97 STXBP1 SCN2A GRIN2A GABRD CACNA1A
9 postsynaptic membrane GO:0045211 9.96 GRIN2A GABRG2 GABRD GABRB3 GABRA1
10 neuron projection GO:0043005 9.92 GRIN2A GABRG2 GABRD GABRB3 GABRA1 CACNA1I
11 cytoplasmic vesicle membrane GO:0030659 9.9 GRIN2A GABRG2 GABRB3 GABRA1
12 GABA-ergic synapse GO:0098982 9.85 GABRG2 GABRD GABRB3 GABRA1
13 chloride channel complex GO:0034707 9.83 GABRG2 GABRD GABRB3 GABRA1
14 postsynapse GO:0098794 9.78 STXBP1 GABRG2 GABRA1
15 voltage-gated calcium channel complex GO:0005891 9.78 CACNA1I CACNA1H CACNA1G CACNA1A
16 T-tubule GO:0030315 9.77 SCN2A SCN1B SCN1A
17 intercalated disc GO:0014704 9.76 SCN2A SCN1B SCN1A
18 GABA-A receptor complex GO:1902711 9.71 GABRG2 GABRD GABRB3 GABRA1
19 sodium channel complex GO:0034706 9.69 SCN2A SCN1B SCN1A
20 axon initial segment GO:0043194 9.67 SCN8A SCN1A KCNQ3 KCNQ2
21 node of Ranvier GO:0033268 9.43 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2
22 voltage-gated sodium channel complex GO:0001518 9.17 SCN8A SCN2A SCN1B SCN1A CACNA1I CACNA1H

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.16 SCN8A SCN2A SCN1A KCNQ3 KCNQ2 GJA8
2 chemical synaptic transmission GO:0007268 10.06 KCNQ3 KCNQ2 GRIN2A GABRG2 GABRD GABRB3
3 sodium ion transmembrane transport GO:0035725 9.98 SCN8A SCN2A SCN1B SCN1A CACNA1I CACNA1H
4 calcium ion transport GO:0006816 9.96 GRIN2A CACNA1I CACNA1H CACNA1G CACNA1A
5 calcium ion transmembrane transport GO:0070588 9.95 GRIN2A CACNA1I CACNA1H CACNA1G CACNA1A
6 sodium ion transport GO:0006814 9.91 SCN8A SCN2A SCN1B SCN1A
7 regulation of membrane potential GO:0042391 9.91 SCN1A GRIN2A GABRG2 GABRD GABRB3 GABRA1
8 chloride transmembrane transport GO:1902476 9.9 GABRG2 GABRD GABRB3 GABRA1
9 ion transmembrane transport GO:0034220 9.9 SCN8A SCN2A SCN1A GRIN2A GABRG2 GABRD
10 chloride transport GO:0006821 9.89 GABRG2 GABRD GABRB3 GABRA1
11 nervous system process GO:0050877 9.88 GABRG2 GABRD GABRB3 GABRA1 CACNA1A
12 regulation of postsynaptic membrane potential GO:0060078 9.87 GRIN2A GABRG2 GABRD GABRA1
13 neuronal action potential GO:0019228 9.85 SCN8A SCN2A SCN1A CACNA1I CACNA1H CACNA1G
14 gamma-aminobutyric acid signaling pathway GO:0007214 9.83 GABRG2 GABRB3 GABRA1 CACNA1A
15 calcium ion import GO:0070509 9.81 CACNA1I CACNA1H CACNA1G CACNA1A
16 positive regulation of calcium ion-dependent exocytosis GO:0045956 9.8 STXBP1 CACNA1I CACNA1H CACNA1G
17 membrane depolarization during action potential GO:0086010 9.8 SCN8A SCN2A SCN1A CACNA1I CACNA1H CACNA1G
18 cardiac muscle cell action potential involved in contraction GO:0086002 9.76 SCN1B SCN1A CACNA1G
19 inhibitory synapse assembly GO:1904862 9.75 GABRG2 GABRB3 GABRA1
20 cellular response to histamine GO:0071420 9.71 GABRG2 GABRB3 GABRA1
21 regulation of ion transmembrane transport GO:0034765 9.65 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2
22 membrane depolarization GO:0051899 9.64 SCN1B CACNA1A
23 action potential GO:0001508 9.64 SCN1A CACNA1G
24 synaptic transmission, GABAergic GO:0051932 9.63 GABRG2 GABRA1
25 sleep GO:0030431 9.63 GRIN2A CACNA1I
26 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.62 SCN1B CACNA1G
27 neuronal action potential propagation GO:0019227 9.62 SCN1B SCN1A
28 locomotion GO:0040011 9.61 SCN1B GRIN2A
29 ion transport GO:0006811 9.5 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 neurotransmitter receptor activity GO:0030594 9.84 GABRG2 GABRD GABRB3 GABRA1
2 chloride channel activity GO:0005254 9.83 GABRG2 GABRD GABRB3 GABRA1
3 calcium channel activity GO:0005262 9.83 GRIN2A CACNA1I CACNA1H CACNA1G CACNA1A
4 extracellular ligand-gated ion channel activity GO:0005230 9.8 GABRG2 GABRD GABRB3 GABRA1
5 cation channel activity GO:0005261 9.8 SCN8A SCN2A SCN1A GRIN2A CACNA1I CACNA1H
6 voltage-gated calcium channel activity GO:0005245 9.78 CACNA1I CACNA1H CACNA1G CACNA1A
7 sodium channel activity GO:0005272 9.76 SCN8A SCN2A SCN1B SCN1A
8 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.72 GRIN2A GABRG2 GABRD GABRB3 GABRA1
9 voltage-gated sodium channel activity GO:0005248 9.7 SCN8A SCN2A SCN1B SCN1A CACNA1I CACNA1H
10 GABA-gated chloride ion channel activity GO:0022851 9.69 GABRG2 GABRB3 GABRA1
11 GABA-A receptor activity GO:0004890 9.67 GABRG2 GABRD GABRB3 GABRA1
12 voltage-gated ion channel activity GO:0005244 9.65 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2
13 low voltage-gated calcium channel activity GO:0008332 9.58 CACNA1I CACNA1H CACNA1G
14 benzodiazepine receptor activity GO:0008503 9.56 GABRG2 GABRA1
15 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.55 GABRG2 GABRA1
16 ion channel activity GO:0005216 9.47 SCN8A SCN2A SCN1A KCNQ3 KCNQ2 GRIN2A

Sources for Childhood Electroclinical Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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43 MeSH
44 MESH via Orphanet
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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