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

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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

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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 CACNA1H (Calcium Voltage-Gated Channel Subunit Alpha1 H), and among its related pathways/superpathways are Peptide ligand-binding receptors and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Related phenotypes are behavior/neurological and nervous system

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Related Diseases for Childhood Electroclinical Syndrome

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

(show all 22)

#	Related Disease	Score	Top Affiliating Genes
1	early onset absence epilepsy	32.2	SLC2A1 GJA8
2	lennox-gastaut syndrome	30.9	SLC2A1 SCN1A POMC GABRG2 GABRB3 GABRA1
3	childhood absence epilepsy	28.3	SLC2A1 NIPA2 GJA8 GABRG2 GABRB3 GABRA5
4	myoclonic epilepsy of infancy	10.5	SCN1A GABRG2
5	cataract 1, multiple types	10.3	GJA8 GABRG2
6	epilepsy with generalized tonic-clonic seizures	10.3	SCN1A EFHC1 CACNA1H
7	childhood disintegrative disease	10.2	POMC GABRB3
8	seizures, benign familial infantile, 3	10.2	SCN1A GABRG2
9	familial hyperaldosteronism	10.2	CLCN2 CACNA1H
10	infancy electroclinical syndrome	10.1	SCN1A POMC GABRG2
11	epileptic encephalopathy, early infantile, 6	10.1	SCN1A GABRG2 GABRB3 GABRA1
12	epilepsy, nocturnal frontal lobe, 1	10.0	SCN1A GABRG2
13	landau-kleffner syndrome	10.0	POMC GRIN2A ELP4
14	benign epilepsy with centrotemporal spikes	9.9	SLC2A1 GRIN2A GABRG2 ELP4
15	juvenile absence epilepsy	9.7	GJA8 GABRA1 EFHC1 CLCN2 CACNA1H
16	epilepsy, idiopathic generalized 10	9.2	SCN1A GJA8 GABRG2 GABRB3 GABRA1 EFHC1
17	epilepsy, idiopathic generalized	9.2	SLC2A1 SCN1A GABRG2 GABRA1 EFHC1 CLCN2
18	focal epilepsy	9.2	SLC2A1 SCN1A GRIN2A GABRG2 GABRA5 CACNA1H
19	angelman syndrome	9.2	NIPA2 GABRG2 GABRB3 GABRA5
20	adolescence-adult electroclinical syndrome	9.1	SCN1A GJA8 GABRG2 GABRB3 GABRA1 EFHC1
21	prader-willi syndrome	8.9	POMC NIPA2 GABRB3 GABRA5
22	epilepsy	8.7	SLC2A1 SCN1A GRIN2A GABRG2 GABRB3 GABRA1

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

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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	9.73	CACNA1H CACNG2 CLCN2 EFHC1 GABRA1 GABRA5
2	nervous system	MP:0003631	9.4	CACNA1H CACNG2 CLCN2 EFHC1 GABRA1 GABRA5

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Drugs & Therapeutics for Childhood Electroclinical Syndrome

Search Clinical Trials , NIH Clinical Center for Childhood Electroclinical Syndrome

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Genetic Tests for Childhood Electroclinical Syndrome

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Anatomical Context for Childhood Electroclinical Syndrome

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Publications for Childhood Electroclinical Syndrome

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Genes for Childhood Electroclinical Syndrome

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

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	CACNA1H	Calcium Voltage-Gated Channel Subunit Alpha1 H	Protein Coding	17.83	DISEASES inferred ¹⁵
2	GABRG2	Gamma-Aminobutyric Acid Type A Receptor Gamma2 Subunit	Protein Coding	17.73	DISEASES inferred ¹⁵
3	GABRB3	Gamma-Aminobutyric Acid Type A Receptor Beta3 Subunit	Protein Coding	17.35	DISEASES inferred ¹⁵
4	EFHC1	EF-Hand Domain Containing 1	Protein Coding	17.1	DISEASES inferred ¹⁵
5	SCN1A	Sodium Voltage-Gated Channel Alpha Subunit 1	Protein Coding	17.09	DISEASES inferred ¹⁵
6	GABRA1	Gamma-Aminobutyric Acid Type A Receptor Alpha1 Subunit	Protein Coding	17.05	DISEASES inferred ¹⁵
7	GJA8	Gap Junction Protein Alpha 8	Protein Coding	17.03	DISEASES inferred ¹⁵
8	GRIN2A	Glutamate Ionotropic Receptor NMDA Type Subunit 2A	Protein Coding	16.88	DISEASES inferred ¹⁵
9	ELP4	Elongator Acetyltransferase Complex Subunit 4	Protein Coding	16.81	DISEASES inferred ¹⁵
10	SLC2A1	Solute Carrier Family 2 Member 1	Protein Coding	16.52	DISEASES inferred ¹⁵
11	CACNG2	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 2	Protein Coding	16.51	DISEASES inferred ¹⁵
12	CLCN2	Chloride Voltage-Gated Channel 2	Protein Coding	16.26	DISEASES inferred ¹⁵
13	POMC	Proopiomelanocortin	Protein Coding	16.25	DISEASES inferred ¹⁵
14	TRAPPC11	Trafficking Protein Particle Complex 11	Protein Coding	16.12	DISEASES inferred ¹⁵
15	GABRA5	Gamma-Aminobutyric Acid Type A Receptor Alpha5 Subunit	Protein Coding	16.1	DISEASES inferred ¹⁵
16	NIPA2	NIPA Magnesium Transporter 2	Protein Coding	16.01	DISEASES inferred ¹⁵
17	GABRR3	Gamma-Aminobutyric Acid Type A Receptor Rho3 Subunit (Gene/Pseudogene)	Protein Coding	15.91	DISEASES inferred ¹⁵

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Variations for Childhood Electroclinical Syndrome

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Expression for Childhood Electroclinical Syndrome

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

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Pathways for Childhood Electroclinical Syndrome

Pathways related to Childhood Electroclinical Syndrome according to GeneCards Suite gene sharing:

(show all 15)

#	Super pathways	Score	Top Affiliating Genes
1	Peptide ligand-binding receptors ⁶⁶ Show member pathways Class A/1 (Rhodopsin-like receptors) ⁶⁶ Defective AVP causes neurohypophyseal diabetes insipidus (NDI) ⁶⁶ Formyl peptide receptors bind formyl peptides and many other ligands ⁶⁶ G alpha (i) signalling events ⁶⁶ GPCR ligand binding ⁶⁶ GPCRs, Class A Rhodopsin-like ¹ Neuroactive ligand-receptor interaction ³⁷ Orexin and neuropeptides FF and QRFP bind to their respective receptors ⁶⁶ Peptide GPCRs ¹ Tachykinin receptors bind tachykinins ⁶⁶ Vasopressin-like receptors ⁶⁶	13.36	POMC GRIN2A GABRR3 GABRG2 GABRB3 GABRA5
2	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	13.16	SLC2A1 NIPA2 GABRR3 GABRG2 GABRB3 GABRA5
3	Sweet Taste Signaling ⁶⁴ Show member pathways Bitter Taste Signaling ⁶⁴ Cellular Effects of Sildenafil ⁶⁴ Melatonin Signaling ⁶⁴ Sperm Motility ⁶⁴	12.84	GABRR3 GABRG2 GABRB3 GABRA5 GABRA1 CACNG2
4	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴ Hedgehog Signaling in Mammals ⁶⁴ Relaxin Pathway ⁶⁴ Signaling in Gap Junctions ⁶⁴	12.79	SCN1A POMC GJA8 CACNG2 CACNA1H
5	Transmission across Chemical Synapses ⁶⁶ Show member pathways Neuronal System ⁶⁶ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁶	12.76	GRIN2A GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
6	Aldosterone synthesis and secretion ³⁷ Show member pathways Ca2+ activated K+ channels ⁶⁶ Cortisol synthesis and secretion ³⁷ Cushing syndrome ³⁷ Insulin secretion ³⁷ Melanogenesis ³⁷ Thyroid hormone synthesis ³⁷	12.62	SLC2A1 POMC CACNG2 CACNA1H
7	GABAergic synapse ³⁷ Show member pathways Morphine addiction ³⁷ Retrograde endocannabinoid signaling ³⁷	12.37	GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
8	Neuroscience ⁴	12.33	SCN1A POMC GRIN2A CACNG2
9	Ion channel transport ⁶⁶ Show member pathways Stimuli-sensing channels ⁶⁶	12.29	GABRR3 GABRG2 GABRB3 GABRA5 GABRA1 CLCN2
10	Apoptosis Pathway ⁷¹ Show member pathways Akt Pathway ⁷¹ NF-kappaB Pathway ⁷¹	12.2	GABRG2 GABRB3 GABRA5 GABRA1
11	GABA receptor activation ⁶⁶ Show member pathways Activation of GABAB receptors ⁶⁶ GABA B receptor activation ⁶⁶	11.79	GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
12	Ligand-gated ion channel transport ⁶⁶ Show member pathways GABA A (rho) receptor activation ⁶⁶ GABA A receptor activation ⁶⁶	10.98	GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
13	Benzodiazepine Pathway, Pharmacodynamics ⁶¹ Show member pathways Reuptake of GABA ⁶⁶	10.77	GABRG2 GABRA1
14	Nicotine addiction ³⁷	10.7	GRIN2A GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
15	Synaptic Neurotransmission Pathways: GABAergic Inhibition ⁶⁵	10.69	GABRG2 GABRB3 GABRA5 GABRA1

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GO Terms for Childhood Electroclinical Syndrome

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

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell junction	GO:0030054	9.97	GRIN2A GJA8 GABRR3 GABRG2 GABRB3 GABRA5
2	synapse	GO:0045202	9.95	GRIN2A GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
3	integral component of plasma membrane	GO:0005887	9.85	SLC2A1 GRIN2A GJA8 GABRR3 GABRG2 GABRB3
4	postsynaptic membrane	GO:0045211	9.8	GRIN2A GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
5	neuron projection	GO:0043005	9.8	GRIN2A GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
6	GABA-ergic synapse	GO:0098982	9.73	GABRG2 GABRB3 GABRA5 GABRA1
7	cytoplasmic vesicle membrane	GO:0030659	9.72	GABRG2 GABRB3 GABRA1
8	postsynapse	GO:0098794	9.69	GABRG2 GABRA5 GABRA1
9	dendrite membrane	GO:0032590	9.65	GABRG2 GABRA5 GABRA1
10	voltage-gated calcium channel complex	GO:0005891	9.57	CACNG2 CACNA1H
11	integral component of postsynaptic specialization membrane	GO:0099060	9.56	GABRA5 GABRA1
12	postsynaptic density membrane	GO:0098839	9.52	GRIN2A CACNG2
13	GABA-A receptor complex	GO:1902711	9.35	GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
14	chloride channel complex	GO:0034707	9.1	GABRR3 GABRG2 GABRB3 GABRA5 GABRA1 CLCN2
15	membrane	GO:0016020	10.35	SLC2A1 SCN1A NIPA2 GRIN2A GJA8 GABRR3
16	integral component of membrane	GO:0016021	10.31	SLC2A1 SCN1A NIPA2 GRIN2A GJA8 GABRR3
17	plasma membrane	GO:0005886	10.27	SLC2A1 SCN1A NIPA2 GRIN2A GJA8 GABRR3

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

(show all 21)

#	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane transport	GO:0055085	9.93	SLC2A1 SCN1A GJA8 CLCN2 CACNA1H
2	chemical synaptic transmission	GO:0007268	9.91	GRIN2A GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
3	chloride transmembrane transport	GO:1902476	9.88	GABRR3 GABRG2 GABRB3 GABRA5 GABRA1 CLCN2
4	chloride transport	GO:0006821	9.85	GABRR3 GABRG2 GABRB3 GABRA5 GABRA1 CLCN2
5	regulation of ion transmembrane transport	GO:0034765	9.81	SCN1A CLCN2 CACNG2 CACNA1H
6	ion transmembrane transport	GO:0034220	9.81	SCN1A GRIN2A GABRR3 GABRG2 GABRB3 GABRA5
7	regulation of postsynaptic membrane potential	GO:0060078	9.78	GRIN2A GABRG2 GABRA5 GABRA1
8	calcium ion transport	GO:0006816	9.76	GRIN2A CACNG2 CACNA1H
9	calcium ion transmembrane transport	GO:0070588	9.73	GRIN2A CACNG2 CACNA1H
10	nervous system process	GO:0050877	9.73	GABRR3 GABRG2 GABRB3 GABRA5 GABRA1 CACNG2
11	gamma-aminobutyric acid signaling pathway	GO:0007214	9.72	GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
12	ion transport	GO:0006811	9.7	SCN1A NIPA2 GRIN2A GABRR3 GABRG2 GABRB3
13	synaptic transmission, GABAergic	GO:0051932	9.67	GABRG2 GABRA5 GABRA1
14	cellular response to histamine	GO:0071420	9.63	GABRG2 GABRB3 GABRA1
15	neuronal action potential	GO:0019228	9.6	SCN1A CACNA1H
16	cochlea development	GO:0090102	9.59	GABRB3 GABRA5
17	regulation of neuron apoptotic process	GO:0043523	9.58	GABRB3 GABRA5
18	innervation	GO:0060384	9.57	GABRB3 GABRA5
19	membrane depolarization during action potential	GO:0086010	9.55	SCN1A CACNA1H
20	inner ear receptor cell development	GO:0060119	9.52	GABRB3 GABRA5
21	regulation of membrane potential	GO:0042391	9.28	SCN1A GRIN2A GABRR3 GABRG2 GABRB3 GABRA5

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

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular ligand-gated ion channel activity	GO:0005230	9.72	GABRR3 GABRG2 GABRB3 GABRA5 GABRA1
2	ion channel activity	GO:0005216	9.7	SCN1A GRIN2A GABRR3 GABRG2 GABRB3 GABRA5
3	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	GO:1904315	9.67	GABRG2 GABRB3 GABRA5 GABRA1
4	calcium channel activity	GO:0005262	9.63	GRIN2A CACNG2 CACNA1H
5	inhibitory extracellular ligand-gated ion channel activity	GO:0005237	9.61	GABRG2 GABRA5 GABRA1
6	benzodiazepine receptor activity	GO:0008503	9.58	GABRG2 GABRA5 GABRA1
7	GABA-gated chloride ion channel activity	GO:0022851	9.56	GABRG2 GABRB3 GABRA5 GABRA1
8	chloride channel activity	GO:0005254	9.43	GABRR3 GABRG2 GABRB3 GABRA5 GABRA1 CLCN2
9	GABA-A receptor activity	GO:0004890	9.02	GABRR3 GABRG2 GABRB3 GABRA5 GABRA1

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