Childhood Electroclinical Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Childhood Electroclinical Syndrome

MalaCards integrated aliases for Childhood Electroclinical Syndrome:

Name: Childhood Electroclinical Syndrome ¹² ¹⁵

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0050704

Sources

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

Sources

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:

Sources

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

Sources

Drugs & Therapeutics for Childhood Electroclinical Syndrome

Search Clinical Trials , NIH Clinical Center for Childhood Electroclinical Syndrome

Sources

Genetic Tests for Childhood Electroclinical Syndrome

Sources

Anatomical Context for Childhood Electroclinical Syndrome

Sources

Publications for Childhood Electroclinical Syndrome

Sources

Genes for Childhood Electroclinical Syndrome

Genes related to Childhood Electroclinical Syndrome (0 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	CACNA1H	Calcium Voltage-Gated Channel Subunit Alpha1 H	Protein Coding	17.7	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
2	GABRG2	Gamma-Aminobutyric Acid Type A Receptor Gamma2 Subunit	Protein Coding	17.65	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	TBC1D24	TBC1 Domain Family Member 24	Protein Coding	17.56	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	GABRB3	Gamma-Aminobutyric Acid Type A Receptor Beta3 Subunit	Protein Coding	17.45	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	KCNQ2	Potassium Voltage-Gated Channel Subfamily Q Member 2	Protein Coding	17.05	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	ELP4	Elongator Acetyltransferase Complex Subunit 4	Protein Coding	17.05	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	SLC2A1	Solute Carrier Family 2 Member 1	Protein Coding	16.93	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	GABRA1	Gamma-Aminobutyric Acid Type A Receptor Alpha1 Subunit	Protein Coding	16.93	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	GJA8	Gap Junction Protein Alpha 8	Protein Coding	16.82	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	GRIN2A	Glutamate Ionotropic Receptor NMDA Type Subunit 2A	Protein Coding	16.81	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	EFHC1	EF-Hand Domain Containing 1	Protein Coding	16.42	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	GABRA5	Gamma-Aminobutyric Acid Type A Receptor Alpha5 Subunit	Protein Coding	16.42	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
13	POMC	Proopiomelanocortin	Protein Coding	16.29	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
14	WARS	Tryptophanyl-TRNA Synthetase	Protein Coding	16.12	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
15	CLCN2	Chloride Voltage-Gated Channel 2	Protein Coding	16.01	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

Sources

Variations for Childhood Electroclinical Syndrome

Sources

Expression for Childhood Electroclinical Syndrome

Search GEO for disease gene expression data for Childhood Electroclinical Syndrome.

Sources

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	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds ⁶⁶ Show member pathways Bicarbonate transporters ⁶⁶ Cation-coupled Chloride cotransporters ⁶⁶ Class II GLUTs ⁶⁶ Facilitative Na+-independent glucose transporters ⁶⁶ Inositol transporters ⁶⁶ Multifunctional anion exchangers ⁶⁶ Na+/Cl- dependent neurotransmitter transporters ⁶⁶ Na+-dependent glucose transporters ⁶⁶ Organic anion transport ⁶⁶ Organic anion transporters ⁶⁶ Organic cation transport ⁶⁶ Organic cation/anion/zwitterion transport ⁶⁶ Proton/oligopeptide cotransporters ⁶⁶ Proton-coupled monocarboxylate transport ⁶⁶ Rhesus glycoproteins mediate ammonium transport. ⁶⁶ SLC-mediated transmembrane transport ⁶⁶ Sodium/Calcium exchangers ⁶⁶ Sodium/Proton exchangers ⁶⁶ Sodium-coupled phosphate cotransporters ⁶⁶ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁶ Transmembrane transport of small molecules ⁶⁶ Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁶ Type II Na+/Pi cotransporters ⁶⁶	13.1	CLCN2 GABRA1 GABRA5 GABRB3 GABRG2 SLC2A1
2	Sweet Taste Signaling ⁶⁴ Show member pathways Bitter Taste Signaling ⁶⁴ Cellular Effects of Sildenafil ⁶⁴ Melatonin Signaling ⁶⁴ Sperm Motility ⁶⁴	12.76	CACNA1H GABRA1 GABRA5 GABRB3 GABRG2
3	Transmission across Chemical Synapses ⁶⁶ Show member pathways Neuronal System ⁶⁶ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁶	12.7	GABRA1 GABRA5 GABRB3 GABRG2 GRIN2A KCNQ2
4	GABAergic synapse ³⁷ Show member pathways Morphine addiction ³⁷ Retrograde endocannabinoid signaling ³⁷	12.25	GABRA1 GABRA5 GABRB3 GABRG2
5	Ion channel transport ⁶⁶ Show member pathways Stimuli-sensing channels ⁶⁶	12.15	CLCN2 GABRA1 GABRA5 GABRB3 GABRG2
6	Apoptosis Pathway ⁷² Show member pathways Akt Pathway ⁷² NF-kappaB Pathway ⁷²	12.13	GABRA1 GABRA5 GABRB3 GABRG2
7	GABA receptor activation ⁶⁶ Show member pathways Activation of GABAB receptors ⁶⁶ GABA B receptor activation ⁶⁶	11.76	GABRA1 GABRA5 GABRB3 GABRG2
8	Ligand-gated ion channel transport ⁶⁶ Show member pathways GABA A (rho) receptor activation ⁶⁶ GABA A receptor activation ⁶⁶	11.08	GABRA1 GABRA5 GABRB3 GABRG2
9	Benzodiazepine Pathway, Pharmacodynamics ⁶¹ Show member pathways Reuptake of GABA ⁶⁶	10.71	GABRA1 GABRG2
10	Nicotine addiction ³⁷	10.62	GABRA1 GABRA5 GABRB3 GABRG2 GRIN2A
11	Synaptic Neurotransmission Pathways: GABAergic Inhibition ⁶⁵	10.49	GABRA1 GABRA5 GABRB3 GABRG2

Sources

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

Sources for Childhood Electroclinical Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia