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 ¹¹ ¹⁴

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0050704

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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

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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 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:

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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

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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

Articles related to Childhood Electroclinical Syndrome:

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

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Genes for Childhood Electroclinical Syndrome

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

(show all 37)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SCN1A	Sodium Voltage-Gated Channel Alpha Subunit 1	Protein Coding	8.34	DISEASES inferred ¹⁴
2	GABRG2	Gamma-Aminobutyric Acid Type A Receptor Subunit Gamma2	Protein Coding	8.23	DISEASES inferred ¹⁴
3	CACNA1H	Calcium Voltage-Gated Channel Subunit Alpha1 H	Protein Coding	8.06	DISEASES inferred ¹⁴
4	GABRB3	Gamma-Aminobutyric Acid Type A Receptor Subunit Beta3	Protein Coding	7.86	DISEASES inferred ¹⁴
5	GABRA1	Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1	Protein Coding	7.72	DISEASES inferred ¹⁴
6	SCN2A	Sodium Voltage-Gated Channel Alpha Subunit 2	Protein Coding	7.69	DISEASES inferred ¹⁴
7	STXBP1	Syntaxin Binding Protein 1	Protein Coding	7.6	DISEASES inferred ¹⁴
8	KCNQ2	Potassium Voltage-Gated Channel Subfamily Q Member 2	Protein Coding	7.56	DISEASES inferred ¹⁴
9	CACNA1G	Calcium Voltage-Gated Channel Subunit Alpha1 G	Protein Coding	7.54	DISEASES inferred ¹⁴
10	EPRS1	Glutamyl-Prolyl-TRNA Synthetase 1	Protein Coding	7.51	DISEASES inferred ¹⁴ ¹⁴
11	EFHC1	EF-Hand Domain Containing 1	Protein Coding	7.5	DISEASES inferred ¹⁴
12	SCN8A	Sodium Voltage-Gated Channel Alpha Subunit 8	Protein Coding	7.46	DISEASES inferred ¹⁴
13	CDKL5	Cyclin Dependent Kinase Like 5	Protein Coding	7.4	DISEASES inferred ¹⁴
14	SLC6A1	Solute Carrier Family 6 Member 1	Protein Coding	7.39	DISEASES inferred ¹⁴
15	PCDH19	Protocadherin 19	Protein Coding	7.33	DISEASES inferred ¹⁴
16	CACNA1I	Calcium Voltage-Gated Channel Subunit Alpha1 I	Protein Coding	7.26	DISEASES inferred ¹⁴
17	GRIN2A	Glutamate Ionotropic Receptor NMDA Type Subunit 2A	Protein Coding	7.26	DISEASES inferred ¹⁴
18	KCNT1	Potassium Sodium-Activated Channel Subfamily T Member 1	Protein Coding	7.21	DISEASES inferred ¹⁴
19	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	7.06	DISEASES inferred ¹⁴
20	ELP4	Elongator Acetyltransferase Complex Subunit 4	Protein Coding	7.02	DISEASES inferred ¹⁴
21	KCNQ3	Potassium Voltage-Gated Channel Subfamily Q Member 3	Protein Coding	6.96	DISEASES inferred ¹⁴
22	GABRD	Gamma-Aminobutyric Acid Type A Receptor Subunit Delta	Protein Coding	6.94	DISEASES inferred ¹⁴
23	GPR55	G Protein-Coupled Receptor 55	Protein Coding	6.93	DISEASES inferred ¹⁴
24	SLC2A1	Solute Carrier Family 2 Member 1	Protein Coding	6.85	DISEASES inferred ¹⁴
25	PCDH10	Protocadherin 10	Protein Coding	6.83	DISEASES inferred ¹⁴
26	SCN1B	Sodium Voltage-Gated Channel Beta Subunit 1	Protein Coding	6.81	DISEASES inferred ¹⁴
27	ALDH5A1	Aldehyde Dehydrogenase 5 Family Member A1	Protein Coding	6.75	DISEASES inferred ¹⁴
28	DEPDC5	DEP Domain Containing 5, GATOR1 Subcomplex Subunit	Protein Coding	6.75	DISEASES inferred ¹⁴
29	NIPA2	NIPA Magnesium Transporter 2	Protein Coding	6.71	DISEASES inferred ¹⁴
30	PVALB	Parvalbumin	Protein Coding	6.67	DISEASES inferred ¹⁴
31	CACNB4	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4	Protein Coding	6.61	DISEASES inferred ¹⁴
32	SRPX2	Sushi Repeat Containing Protein X-Linked 2	Protein Coding	6.6	DISEASES inferred ¹⁴
33	POMC	Proopiomelanocortin	Protein Coding	6.57	DISEASES inferred ¹⁴
34	SV2A	Synaptic Vesicle Glycoprotein 2A	Protein Coding	6.54	DISEASES inferred ¹⁴
35	PRRT2	Proline Rich Transmembrane Protein 2	Protein Coding	6.53	DISEASES inferred ¹⁴
36	CACNG3	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 3	Protein Coding	6.52	DISEASES inferred ¹⁴
37	CHRNA4	Cholinergic Receptor Nicotinic Alpha 4 Subunit	Protein Coding	6.49	DISEASES inferred ¹⁴

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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 25)

#	Super pathways	Score	Top Affiliating Genes
1	Activation of cAMP-Dependent PKA ⁶⁴ Show member pathways Activation of PKA through GPCR ⁶⁴ cAMP Pathway ⁶⁴ PKA Signaling ⁶⁴	13.45	SCN8A SCN2A SCN1A KCNT1 CACNA1I CACNA1H
2	Transmission across Chemical Synapses ⁶⁶ Show member pathways Neuronal System ⁶⁶ Neurotransmitter receptors and postsynaptic signal transmission ⁶⁶	12.92	STXBP1 SLC6A1 KCNQ2 GRIN2A GABRG2 GABRB3
3	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 2 - plateau phase ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.71	CACNA1G CACNA1H CACNA1I SCN1A SCN2A SCN8A
4	Sweet Taste Signaling ⁶⁴ Show member pathways Bitter Taste Signaling ⁶⁴ Cellular Effects of Sildenafil ⁶⁴ Melatonin Signaling ⁶⁴ Sperm Motility ⁶⁴	12.7	KCNT1 GABRG2 GABRB3 GABRA1 CDKL5 CACNA1I
5	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶⁴ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶⁴ Cholera Infection ⁶⁴	12.56	SCN8A SCN2A SCN1A KCNT1 GRIN2A
6	Neuroscience ³	12.41	STXBP1 SCN8A SCN2A SCN1A KCNQ2 GRIN2A
7	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.39	SCN8A SCN2A SCN1A CACNA1I CACNA1H CACNA1G
8	MAPK signaling pathway ⁷⁴	12.3	CACNA1I CACNA1H CACNA1G CACNA1A
9	Development Ligand-independent activation of ESR1 and ESR2 ²² Show member pathways Transcription CREB pathway ²² Transcription PPAR Pathway ²²	12.22	CACNA1I CACNA1H CACNA1G CACNA1A
10	L1CAM interactions ⁶⁶ Show member pathways CHL1 interactions ⁶⁶ Neurofascin interactions ⁶⁶ NrCAM interactions ⁶⁶ Recycling pathway of L1 ⁶⁶	12.16	KCNQ2 SCN1A SCN2A SCN8A
11	Presenilin-Mediated Signaling ⁶⁴	12.01	CACNA1I CACNA1H CACNA1G CACNA1A
12	Fc-GammaR Pathway ⁶⁴ Show member pathways Fc-Gamma-RIIB Signaling in B-Cells ⁶⁴	11.95	CACNA1I CACNA1H CACNA1G CACNA1A
13	Signaling by ERBB4 ⁶⁶ Show member pathways Downregulation of ERBB4 signaling ⁶⁶ ErbB4 signaling events ⁶¹ Nuclear signaling by ERBB4 ⁶⁶	11.92	GABRG2 GABRB3 GABRA1
14	Fragile X syndrome ⁷⁴ Show member pathways Pilocytic astrocytoma ⁷⁴	11.91	SLC6A1 GRIN2A GABRG2 GABRA1
15	NCAM signaling for neurite out-growth ⁶⁶ Show member pathways NCAM1 interactions ⁶⁶	11.81	CACNA1I CACNA1H CACNA1G
16	G-protein signaling_RhoA regulation pathway ²²	11.61	CACNA1I CACNA1H CACNA1G CACNA1A
17	Smooth Muscle Contraction ⁶⁶	11.4	CACNA1I CACNA1H CACNA1G
18	mBDNF and proBDNF regulation of GABA neurotransmission ⁷⁴	11.3	GABRG2 GABRB3 GABRA1
19	Phase 0 - rapid depolarisation ⁶⁶	11.23	SCN8A SCN2A SCN1A
20	Celecoxib Pathway, Pharmacodynamics ⁶⁰	11.12	KCNQ2 CACNA1I CACNA1H CACNA1G CACNA1A
21	Interaction between L1 and Ankyrins ⁶⁶	11.11	KCNQ2 SCN1A SCN2A SCN8A
22	Dravet syndrome ⁷⁴	11.01	STXBP1 SCN1A PCDH19
23	Benzodiazepine Pathway, Pharmacodynamics ⁶⁰ Show member pathways Reuptake of GABA ⁶⁶	10.89	SLC6A1 GABRG2 GABRA1
24	Synaptic Neurotransmission: GABAergic Inhibition ⁶⁵	10.84	GABRG2 GABRB3 GABRA1
25	Rett syndrome causing genes ⁷⁴	10.78	STXBP1 SCN8A SCN2A SCN1A GRIN2A CDKL5

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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 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

Sources for Childhood Electroclinical Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: CHL058 MIFTS: 25	Childhood Electroclinical Syndrome Categories: Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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