MCID: CHL058
MIFTS: 25

Childhood Electroclinical Syndrome

Categories: Neuronal diseases
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Aliases & Classifications for Childhood Electroclinical Syndrome

MalaCards integrated aliases for Childhood Electroclinical Syndrome:

Name: Childhood Electroclinical Syndrome 11 14

Classifications:



External Ids:

Disease Ontology 11 DOID:0050704

Summaries for Childhood Electroclinical Syndrome

Disease Ontology: 11 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 landau-kleffner 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 Transmission across Chemical Synapses. Related phenotypes are Resistant to vaccinia virus (VACV-A4L) infection 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 top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 early onset absence epilepsy 31.8 SLC6A1 SCN2A SCN1A KCNQ2 GABRG2 GABRB3
2 landau-kleffner syndrome 31.5 STXBP1 SCN2A SCN1A PCDH19 KCNQ2 GRIN2A
3 lennox-gastaut syndrome 30.9 STXBP1 SLC6A1 SCN8A SCN2A SCN1A PCDH19
4 benign epilepsy with centrotemporal spikes 30.6 STXBP1 SLC6A1 SCN8A SCN2A SCN1A PCDH19
5 childhood absence epilepsy 30.5 STXBP1 SLC6A1 SCN8A SCN2A SCN1A PCDH19
6 febrile seizures, familial, 11 10.4 SCN1A GABRG2
7 generalized epilepsy with febrile seizures plus, type 1 10.4 SCN1A GABRG2
8 seizures, benign familial infantile, 3 10.4 SCN2A KCNQ2
9 epilepsy with myoclonic-atonic seizures 10.4 SLC6A1 SCN1A
10 developmental and epileptic encephalopathy 74 10.4 GABRG2 GABRB3 GABRA1
11 familial or sporadic hemiplegic migraine 10.4 SCN1A CACNA1A
12 reflex epilepsy 10.4 SCN2A SCN1A GABRG2
13 high pressure neurological syndrome 10.4 GRIN2A CACNA1H
14 febrile seizures, familial, 8 10.4 SCN1A GABRG2
15 generalized epilepsy with febrile seizures plus, type 2 10.4 SCN2A SCN1A GABRG2
16 verbal auditory agnosia 10.4 GABRG2 ELP4
17 developmental and epileptic encephalopathy 13 10.4 SCN8A SCN2A SCN1A
18 schuurs-hoeijmakers syndrome 10.3 STXBP1 SCN2A KCNQ2
19 paramyotonia congenita of von eulenburg 10.3 SCN8A SCN2A SCN1A
20 generalized epilepsy with febrile seizures plus, type 7 10.3 SCN1A KCNT1 GABRG2
21 severe congenital neutropenia 8 10.3 SCN8A PCDH19
22 developmental and epileptic encephalopathy 54 10.3 SLC6A1 GABRG2
23 developmental and epileptic encephalopathy 43 10.3 SCN1A GABRG2 GABRB3 GABRA1
24 hyperkalemic periodic paralysis 10.3 SCN8A SCN2A SCN1A
25 febrile seizures 10.3 SCN8A SCN2A SCN1A GABRG2
26 febrile seizures, familial, 4 10.3 SCN1A GABRG2
27 paine syndrome 10.3 SCN8A SCN2A SCN1A
28 progressive familial heart block, type ia 10.3 SCN8A SCN1A
29 spinocerebellar ataxia 6 10.3 SCN1A CACNA1H CACNA1A
30 developmental and epileptic encephalopathy 52 10.3 SCN8A SCN1A CACNA1A
31 alternating hemiplegia of childhood 10.3 SCN2A SCN1A CACNA1A
32 timothy syndrome 10.3 CACNA1H CACNA1G CACNA1A
33 trigeminal nerve disease 10.3 SCN8A SCN2A SCN1A CACNA1H
34 encephalopathy 10.3 STXBP1 SCN1A PCDH19 CDKL5
35 developmental and epileptic encephalopathy 87 10.3 STXBP1 CDKL5
36 developmental and epileptic encephalopathy 47 10.3 SCN8A CACNA1A
37 non-specific early-onset epileptic encephalopathy 10.3 SCN8A GABRG2 CACNA1A
38 familial periodic paralysis 10.3 SCN2A SCN1A
39 spinocerebellar ataxia 27 10.3 SCN8A CACNA1A
40 erythromelalgia 10.3 SCN8A SCN2A SCN1A KCNQ2
41 developmental and epileptic encephalopathy 7 10.3 SCN2A SCN1A KCNT1 KCNQ2
42 partington syndrome 10.3 STXBP1 PCDH19 CDKL5
43 trigeminal neuralgia 10.3 SCN8A SCN1A CACNA1H CACNA1A
44 epilepsy, familial temporal lobe, 1 10.3 SCN1A GABRG2 ELP4 EFHC1
45 migraine, familial hemiplegic, 3 10.3 SCN8A SCN2A SCN1A CACNA1A
46 spinocerebellar ataxia, autosomal recessive 17 10.3 CACNA1G CACNA1A
47 autosomal dominant severe congenital neutropenia 10.3 SCN8A SCN1A PCDH19 CDKL5
48 pitt-hopkins syndrome 10.3 STXBP1 SLC6A1 SCN2A CDKL5
49 paroxysmal extreme pain disorder 10.3 SCN8A SCN2A SCN1A CACNA1A
50 episodic ataxia, type 8 10.3 SCN2A 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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.28 CACNA1G EFHC1 GABRA1 GRIN2A KCNQ2 SCN1A

MGI Mouse Phenotypes related to Childhood Electroclinical Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.21 CACNA1A CACNA1G CACNA1H CACNA1I CDKL5 EFHC1
2 growth/size/body region MP:0005378 10 CACNA1A CACNA1G CACNA1H CACNA1I EPRS1 GABRA1
3 normal MP:0002873 9.92 CACNA1A EPRS1 GABRA1 GABRB3 GABRG2 KCNT1
4 behavior/neurological MP:0005386 9.89 CACNA1A CACNA1G CACNA1H CDKL5 EFHC1 GABRA1
5 respiratory system MP:0005388 9.17 CACNA1A CACNA1H EPRS1 KCNQ2 SCN1A SCN2A

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

Articles related to Childhood Electroclinical Syndrome:

# Title Authors PMID Year
1
An Update to Approach to the Childhood Electroclinical Syndromes. 62
33151436 2020

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
13.45 SCN8A SCN2A SCN1A KCNT1 CACNA1I CACNA1H
2
Show member pathways
12.92 STXBP1 SLC6A1 KCNQ2 GRIN2A GABRG2 GABRB3
3
Show member pathways
12.71 CACNA1G CACNA1H CACNA1I SCN1A SCN2A SCN8A
4
Show member pathways
12.7 KCNT1 GABRG2 GABRB3 GABRA1 CDKL5 CACNA1I
5
Show member pathways
12.56 SCN8A SCN2A SCN1A KCNT1 GRIN2A
6 12.41 STXBP1 SCN8A SCN2A SCN1A KCNQ2 GRIN2A
7
Show member pathways
12.39 SCN8A SCN2A SCN1A CACNA1I CACNA1H CACNA1G
8 12.3 CACNA1I CACNA1H CACNA1G CACNA1A
9
Show member pathways
12.22 CACNA1I CACNA1H CACNA1G CACNA1A
10
Show member pathways
12.16 KCNQ2 SCN1A SCN2A SCN8A
11 12.01 CACNA1I CACNA1H CACNA1G CACNA1A
12
Show member pathways
11.95 CACNA1I CACNA1H CACNA1G CACNA1A
13
Show member pathways
11.92 GABRG2 GABRB3 GABRA1
14
Show member pathways
11.91 SLC6A1 GRIN2A GABRG2 GABRA1
15
Show member pathways
11.81 CACNA1I CACNA1H CACNA1G
16 11.61 CACNA1I CACNA1H CACNA1G CACNA1A
17 11.4 CACNA1I CACNA1H CACNA1G
18 11.3 GABRG2 GABRB3 GABRA1
19 11.23 SCN8A SCN2A SCN1A
20 11.12 KCNQ2 CACNA1I CACNA1H CACNA1G CACNA1A
21 11.11 KCNQ2 SCN1A SCN2A SCN8A
22 11.01 STXBP1 SCN1A PCDH19
23
Show member pathways
10.89 SLC6A1 GABRG2 GABRA1
24 10.84 GABRG2 GABRB3 GABRA1
25 10.78 STXBP1 SCN8A SCN2A SCN1A GRIN2A CDKL5

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 11.15 CACNA1A CACNA1G CACNA1H CACNA1I EPRS1 GABRA1
2 membrane GO:0016021 11.15 CACNA1A CACNA1G CACNA1H CACNA1I GABRA1 GABRB3
3 plasma membrane GO:0005886 11.02 CACNA1A CACNA1G CACNA1H CACNA1I EPRS1 GABRA1
4 plasma membrane GO:0005887 11.02 CACNA1H GABRA1 GABRB3 GABRG2 GRIN2A KCNQ2
5 glutamatergic synapse GO:0098978 10.27 STXBP1 SCN2A GRIN2A GABRG2 CDKL5
6 axon GO:0030424 10.23 STXBP1 SLC6A1 SCN8A SCN2A SCN1A GABRG2
7 synapse GO:0045202 10.17 CACNA1A CACNA1G GABRA1 GABRB3 GABRG2 GRIN2A
8 cytoplasmic vesicle membrane GO:0030659 10.14 GRIN2A GABRG2 GABRB3 GABRA1
9 cell projection GO:0042995 10.11 SLC6A1 SCN8A GRIN2A GABRG2 EFHC1 CDKL5
10 postsynapse GO:0098794 10.07 GABRA1 GABRG2 GRIN2A STXBP1
11 chloride channel complex GO:0034707 10.03 GABRG2 GABRB3 GABRA1
12 postsynaptic membrane GO:0045211 10.03 GABRA1 GABRB3 GABRG2 GRIN2A SLC6A1
13 neuron projection GO:0043005 10.03 CACNA1G CACNA1H CACNA1I GABRA1 GABRB3 GABRG2
14 axon initial segment GO:0043194 9.88 SCN8A SCN1A KCNQ2
15 voltage-gated calcium channel complex GO:0005891 9.86 CACNA1I CACNA1H CACNA1G CACNA1A
16 GABA-A receptor complex GO:1902711 9.85 GABRG2 GABRB3 GABRA1
17 sodium channel complex GO:0034706 9.72 SCN2A SCN1A
18 GABA receptor complex GO:1902710 9.67 GABRG2 GABRA1
19 node of Ranvier GO:0033268 9.56 SCN8A SCN2A SCN1A KCNQ2
20 voltage-gated sodium channel complex GO:0001518 9.4 SCN8A SCN2A SCN1A CACNA1I CACNA1H CACNA1G

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 10.36 CACNA1A CACNA1G GABRA1 GABRB3 GABRG2 GRIN2A
2 sodium ion transmembrane transport GO:0035725 10.25 SLC6A1 SCN8A SCN2A SCN1A CACNA1I CACNA1H
3 chloride transmembrane transport GO:1902476 10.19 GABRA1 GABRB3 GABRG2 SLC6A1
4 calcium ion transmembrane transport GO:0070588 10.19 GRIN2A CACNA1I CACNA1H CACNA1G CACNA1A
5 excitatory postsynaptic potential GO:0060079 10.18 GRIN2A GABRG2 GABRB3 GABRA1
6 regulation of monoatomic ion transmembrane transport GO:0034765 10.16 CACNA1A CACNA1G CACNA1H CACNA1I KCNQ2 SCN1A
7 regulation of membrane potential GO:0042391 10.15 CACNA1G CACNA1H GABRA1 GABRB3 GABRG2 GRIN2A
8 transmembrane transport GO:0055085 10.13 SLC6A1 SCN8A SCN2A SCN1A KCNQ2 CACNA1I
9 positive regulation of calcium ion-dependent exocytosis GO:0045956 10.1 STXBP1 CACNA1I CACNA1H CACNA1G
10 neuronal action potential GO:0019228 10.1 SCN8A SCN2A SCN1A CACNA1I CACNA1H CACNA1G
11 nervous system process GO:0050877 10.09 GABRG2 GABRB3 GABRA1
12 gamma-aminobutyric acid signaling pathway GO:0007214 10.06 GABRG2 GABRB3 GABRA1
13 synaptic transmission, GABAergic GO:0051932 10.04 GABRG2 GABRB3 GABRA1
14 calcium ion import GO:0070509 10.03 CACNA1G CACNA1H CACNA1I
15 inhibitory synapse assembly GO:1904862 10.02 GABRG2 GABRB3 GABRA1
16 regulation of postsynaptic membrane potential GO:0060078 10 GRIN2A GABRG2 GABRB3 GABRA1
17 monoatomic cation transmembrane transport GO:0098655 9.98 SCN8A SCN2A SCN1A GRIN2A CACNA1G CACNA1A
18 membrane depolarization during action potential GO:0086010 9.93 SCN8A SCN2A SCN1A CACNA1I CACNA1H CACNA1G
19 sleep GO:0030431 9.92 GRIN2A CACNA1I
20 cellular response to histamine GO:0071420 9.91 GABRG2 GABRB3
21 calcium ion transport GO:0006816 9.91 CACNA1A CACNA1G CACNA1H CACNA1I GRIN2A
22 negative regulation of synaptic transmission, GABAergic GO:0032229 9.9 STXBP1 SLC6A1
23 monoatomic ion transmembrane transport GO:0034220 9.8 CACNA1A CACNA1G CACNA1H GABRA1 GABRB3 GABRG2
24 chloride transport GO:0006821 9.79 GABRG2 GABRB3 GABRA1
25 monoatomic ion transport GO:0006811 9.44 SCN8A SCN2A SCN1A KCNT1 KCNQ2 GRIN2A

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 10.04 GABRG2 GABRB3 GABRA1
2 voltage-gated sodium channel activity GO:0005248 10.03 SCN8A SCN2A SCN1A CACNA1I CACNA1H CACNA1G
3 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 10.01 GABRG2 GABRB3 GABRA1
4 excitatory extracellular ligand-gated monoatomic ion channel activity GO:0005231 10 GABRG2 GABRB3 GABRA1
5 GABA-A receptor activity GO:0004890 9.93 GABRG2 GABRB3 GABRA1
6 GABA-gated chloride ion channel activity GO:0022851 9.91 GABRG2 GABRB3 GABRA1
7 voltage-gated monoatomic ion channel activity GO:0005244 9.9 CACNA1A CACNA1G CACNA1H CACNA1I KCNQ2 SCN1A
8 voltage-gated calcium channel activity GO:0005245 9.88 CACNA1I CACNA1H CACNA1G CACNA1A
9 benzodiazepine receptor activity GO:0008503 9.86 GABRG2 GABRA1
10 inhibitory extracellular ligand-gated monoatomic ion channel activity GO:0005237 9.85 GABRG2 GABRA1
11 low voltage-gated calcium channel activity GO:0008332 9.8 CACNA1I CACNA1H CACNA1G
12 calcium channel activity GO:0005262 9.77 CACNA1A CACNA1G CACNA1H CACNA1I GRIN2A
13 GABA receptor activity GO:0016917 9.69 GABRA1 GABRG2
14 extracellular ligand-gated monoatomic ion channel activity GO:0005230 9.67 GABRG2 GABRB3 GABRA1
15 sodium channel activity GO:0005272 9.65 SCN8A SCN2A SCN1A
16 monoatomic cation channel activity GO:0005261 9.5 SCN8A SCN2A SCN1A GRIN2A CACNA1I CACNA1G
17 monoatomic ion channel activity GO:0005216 9.4 SCN8A SCN2A SCN1A KCNQ2 GRIN2A GABRG2

Sources for Childhood Electroclinical Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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