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 23)

#	Related Disease	Score	Top Affiliating Genes
1	early onset absence epilepsy	31.9	GJA8 SLC2A1
2	lennox-gastaut syndrome	30.6	GABRA1 GABRB3 GABRG2 POMC SCN1A SLC2A1
3	childhood absence epilepsy	29.5	CACNA1H CLCN2 EFHC1 GABRA1 GABRA5 GABRB3
4	myoclonic epilepsy of infancy	10.2	GABRG2 SCN1A
5	cataract 1, multiple types	10.2	GABRG2 GJA8
6	seizures, benign familial infantile, 3	10.2	GABRG2 SCN1A
7	epilepsy, nocturnal frontal lobe, 1	10.1	GABRG2 SCN1A
8	epilepsy with generalized tonic-clonic seizures	10.0	CACNA1H EFHC1 SCN1A
9	familial hyperaldosteronism	10.0	CACNA1H CLCN2
10	epileptic encephalopathy, early infantile, 6	10.0	GABRA1 GABRB3 GABRG2 SCN1A
11	childhood disintegrative disease	9.9	GABRB3 POMC
12	benign epilepsy with centrotemporal spikes	9.9	ELP4 GABRG2 GRIN2A SLC2A1
13	landau-kleffner syndrome	9.8	ELP4 GRIN2A POMC
14	infancy electroclinical syndrome	9.8	GABRG2 POMC SCN1A
15	angelman syndrome	9.7	GABRA5 GABRB3 GABRG2 NIPA2
16	juvenile absence epilepsy	9.6	CACNA1H CLCN2 EFHC1 GABRA1 GJA8
17	focal epilepsy	9.5	CACNA1H GABRA5 GABRG2 GRIN2A SCN1A SLC2A1
18	alcohol dependence	9.5	GABRB3 GRIN2A POMC
19	prader-willi syndrome	9.3	GABRA5 GABRB3 NIPA2 POMC
20	epilepsy, idiopathic generalized 10	9.3	CLCN2 EFHC1 GABRA1 GABRB3 GABRG2 GJA8
21	epilepsy, idiopathic generalized	9.3	CACNA1H CLCN2 EFHC1 GABRA1 GABRG2 SCN1A
22	adolescence-adult electroclinical syndrome	9.2	CACNA1H CLCN2 EFHC1 GABRA1 GABRB3 GABRG2
23	epilepsy	8.9	CACNA1H CLCN2 EFHC1 GABRA1 GABRB3 GABRG2

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:

⁴⁷

#	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	CACNA1H CLCN2 EFHC1 GABRA1 GABRA5 GABRB3

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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 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	CACNA1H	Calcium Voltage-Gated Channel Subunit Alpha1 H	Protein Coding	17.79	DISEASES inferred ¹⁵
2	GABRG2	Gamma-Aminobutyric Acid Type A Receptor Gamma2 Subunit	Protein Coding	17.75	DISEASES inferred ¹⁵
3	GABRB3	Gamma-Aminobutyric Acid Type A Receptor Beta3 Subunit	Protein Coding	17.43	DISEASES inferred ¹⁵
4	ELP4	Elongator Acetyltransferase Complex Subunit 4	Protein Coding	17.08	DISEASES inferred ¹⁵
5	GABRA1	Gamma-Aminobutyric Acid Type A Receptor Alpha1 Subunit	Protein Coding	17.01	DISEASES inferred ¹⁵
6	GJA8	Gap Junction Protein Alpha 8	Protein Coding	16.94	DISEASES inferred ¹⁵
7	GRIN2A	Glutamate Ionotropic Receptor NMDA Type Subunit 2A	Protein Coding	16.89	DISEASES inferred ¹⁵
8	SCN1A	Sodium Voltage-Gated Channel Alpha Subunit 1	Protein Coding	16.59	DISEASES inferred ¹⁵
9	SLC2A1	Solute Carrier Family 2 Member 1	Protein Coding	16.42	DISEASES inferred ¹⁵
10	EFHC1	EF-Hand Domain Containing 1	Protein Coding	16.4	DISEASES inferred ¹⁵
11	GABRA5	Gamma-Aminobutyric Acid Type A Receptor Alpha5 Subunit	Protein Coding	16.39	DISEASES inferred ¹⁵
12	GABRR3	Gamma-Aminobutyric Acid Type A Receptor Rho3 Subunit (Gene/Pseudogene)	Protein Coding	16.38	DISEASES inferred ¹⁵
13	NIPA2	NIPA Magnesium Transporter 2	Protein Coding	16.3	DISEASES inferred ¹⁵
14	POMC	Proopiomelanocortin	Protein Coding	16.29	DISEASES inferred ¹⁵
15	CLCN2	Chloride Voltage-Gated Channel 2	Protein Coding	16.2	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 12)

#	Super pathways	Score	Top Affiliating Genes
1	Peptide ligand-binding receptors ⁶⁷ Show member pathways Class A/1 (Rhodopsin-like receptors) ⁶⁷ Defective AVP causes neurohypophyseal diabetes insipidus (NDI) ⁶⁷ Formyl peptide receptors bind formyl peptides and many other ligands ⁶⁷ G alpha (i) signalling events ⁶⁷ GPCR ligand binding ⁶⁷ GPCRs, Class A Rhodopsin-like ¹ Neuroactive ligand-receptor interaction ³⁸ Orexin and neuropeptides FF and QRFP bind to their respective receptors ⁶⁷ Peptide GPCRs ¹ Tachykinin receptors bind tachykinins ⁶⁷ Vasopressin-like receptors ⁶⁷	13.32	GABRA1 GABRA5 GABRB3 GABRG2 GABRR3 GRIN2A
2	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds ⁶⁷ Show member pathways Bicarbonate transporters ⁶⁷ Cation-coupled Chloride cotransporters ⁶⁷ Class II GLUTs ⁶⁷ Facilitative Na+-independent glucose transporters ⁶⁷ Inositol transporters ⁶⁷ Multifunctional anion exchangers ⁶⁷ Na+/Cl- dependent neurotransmitter transporters ⁶⁷ Na+-dependent glucose transporters ⁶⁷ Organic anion transport ⁶⁷ Organic anion transporters ⁶⁷ Organic cation transport ⁶⁷ Organic cation/anion/zwitterion transport ⁶⁷ Proton/oligopeptide cotransporters ⁶⁷ Proton-coupled monocarboxylate transport ⁶⁷ Rhesus glycoproteins mediate ammonium transport. ⁶⁷ SLC-mediated transmembrane transport ⁶⁷ Sodium/Calcium exchangers ⁶⁷ Sodium/Proton exchangers ⁶⁷ Sodium-coupled phosphate cotransporters ⁶⁷ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁷ Transmembrane transport of small molecules ⁶⁷ Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁷ Type II Na+/Pi cotransporters ⁶⁷	13.1	CLCN2 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
3	Sweet Taste Signaling ⁶⁵ Show member pathways Bitter Taste Signaling ⁶⁵ Cellular Effects of Sildenafil ⁶⁵ Melatonin Signaling ⁶⁵ Sperm Motility ⁶⁵	12.82	CACNA1H GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
4	Transmission across Chemical Synapses ⁶⁷ Show member pathways Neuronal System ⁶⁷ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁷	12.76	GABRA1 GABRA5 GABRB3 GABRG2 GABRR3 GRIN2A
5	GABAergic synapse ³⁸ Show member pathways Morphine addiction ³⁸ Retrograde endocannabinoid signaling ³⁸	12.32	GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
6	Ion channel transport ⁶⁷ Show member pathways Stimuli-sensing channels ⁶⁷	12.29	CLCN2 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
7	Apoptosis Pathway ⁷³ Show member pathways Akt Pathway ⁷³ NF-kappaB Pathway ⁷³	12.2	GABRA1 GABRA5 GABRB3 GABRG2
8	GABA receptor activation ⁶⁷ Show member pathways Activation of GABAB receptors ⁶⁷ GABA B receptor activation ⁶⁷	11.79	GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
9	Ligand-gated ion channel transport ⁶⁷ Show member pathways GABA A (rho) receptor activation ⁶⁷ GABA A receptor activation ⁶⁷	10.98	GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
10	Benzodiazepine Pathway, Pharmacodynamics ⁶² Show member pathways Reuptake of GABA ⁶⁷	10.77	GABRA1 GABRG2
11	Nicotine addiction ³⁸	10.7	GABRA1 GABRA5 GABRB3 GABRG2 GABRR3 GRIN2A
12	Synaptic Neurotransmission Pathways: GABAergic Inhibition ⁶⁶	10.69	GABRA1 GABRA5 GABRB3 GABRG2

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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 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell junction	GO:0030054	9.95	GABRA1 GABRA5 GABRB3 GABRG2 GABRR3 GJA8
2	synapse	GO:0045202	9.91	GABRA1 GABRA5 GABRB3 GABRG2 GABRR3 GRIN2A
3	integral component of plasma membrane	GO:0005887	9.85	CACNA1H CLCN2 GABRA1 GABRA5 GABRB3 GABRG2
4	neuron projection	GO:0043005	9.8	GABRA1 GABRA5 GABRB3 GABRG2 GABRR3 GRIN2A
5	postsynaptic membrane	GO:0045211	9.73	GABRA1 GABRA5 GABRB3 GABRG2 GABRR3 GRIN2A
6	cytoplasmic vesicle membrane	GO:0030659	9.7	GABRA1 GABRB3 GABRG2
7	postsynapse	GO:0098794	9.69	GABRA1 GABRA5 GABRG2
8	GABA-ergic synapse	GO:0098982	9.67	GABRA1 GABRA5 GABRB3 GABRG2
9	dendrite membrane	GO:0032590	9.65	GABRA1 GABRA5 GABRG2
10	integral component of postsynaptic specialization membrane	GO:0099060	9.54	GABRA1 GABRA5
11	GABA-A receptor complex	GO:1902711	9.35	GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
12	chloride channel complex	GO:0034707	9.1	CLCN2 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
13	membrane	GO:0016020	10.33	CACNA1H CLCN2 GABRA1 GABRA5 GABRB3 GABRG2
14	integral component of membrane	GO:0016021	10.27	CACNA1H CLCN2 GABRA1 GABRA5 GABRB3 GABRG2
15	plasma membrane	GO:0005886	10.23	CACNA1H CLCN2 GABRA1 GABRA5 GABRB3 GABRG2

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

(show all 19)

#	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane transport	GO:0055085	9.92	CACNA1H CLCN2 GJA8 SCN1A SLC2A1
2	chemical synaptic transmission	GO:0007268	9.91	GABRA1 GABRA5 GABRB3 GABRG2 GABRR3 GRIN2A
3	chloride transmembrane transport	GO:1902476	9.85	CLCN2 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
4	ion transport	GO:0006811	9.85	CACNA1H CLCN2 GABRA1 GABRA5 GABRB3 GABRG2
5	nervous system process	GO:0050877	9.8	GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
6	chloride transport	GO:0006821	9.8	CLCN2 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
7	regulation of postsynaptic membrane potential	GO:0060078	9.78	GABRA1 GABRA5 GABRG2 GRIN2A
8	regulation of ion transmembrane transport	GO:0034765	9.74	CACNA1H CLCN2 SCN1A
9	synaptic transmission, GABAergic	GO:0051932	9.67	GABRA1 GABRA5 GABRG2
10	gamma-aminobutyric acid signaling pathway	GO:0007214	9.65	GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
11	cellular response to histamine	GO:0071420	9.63	GABRA1 GABRB3 GABRG2
12	ion transmembrane transport	GO:0034220	9.61	CACNA1H CLCN2 GABRA1 GABRA5 GABRB3 GABRG2
13	cochlea development	GO:0090102	9.58	GABRA5 GABRB3
14	neuronal action potential	GO:0019228	9.58	CACNA1H SCN1A
15	regulation of neuron apoptotic process	GO:0043523	9.56	GABRA5 GABRB3
16	innervation	GO:0060384	9.55	GABRA5 GABRB3
17	membrane depolarization during action potential	GO:0086010	9.54	CACNA1H SCN1A
18	inner ear receptor cell development	GO:0060119	9.51	GABRA5 GABRB3
19	regulation of membrane potential	GO:0042391	9.23	CACNA1H GABRA1 GABRA5 GABRB3 GABRG2 GABRR3

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	GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
2	ion channel activity	GO:0005216	9.7	GABRA1 GABRA5 GABRB3 GABRG2 GABRR3 GRIN2A
3	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	GO:1904315	9.67	GABRA1 GABRA5 GABRB3 GABRG2
4	benzodiazepine receptor activity	GO:0008503	9.61	GABRA1 GABRA5 GABRG2
5	inhibitory extracellular ligand-gated ion channel activity	GO:0005237	9.58	GABRA1 GABRA5 GABRG2
6	GABA-gated chloride ion channel activity	GO:0022851	9.56	GABRA1 GABRA5 GABRB3 GABRG2
7	chloride channel activity	GO:0005254	9.43	CLCN2 GABRA1 GABRA5 GABRB3 GABRG2 GABRR3
8	GABA-A receptor activity	GO:0004890	9.02	GABRA1 GABRA5 GABRB3 GABRG2 GABRR3

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Sources for Childhood Electroclinical Syndrome

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