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

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Aliases & Classifications for Infancy Electroclinical Syndrome

MalaCards integrated aliases for Infancy Electroclinical Syndrome:

Name: Infancy Electroclinical Syndrome ¹¹ ¹⁴

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0050703

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Summaries for Infancy Electroclinical Syndrome

Disease Ontology: ¹¹ An electroclinical syndrome with onset in infancy occurring between birth and one year of age.

MalaCards based summary: Infancy Electroclinical Syndrome is related to benign familial infantile epilepsy and west syndrome. An important gene associated with Infancy Electroclinical Syndrome is PRRT2 (Proline Rich Transmembrane Protein 2), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and G-Beta Gamma Signaling. Related phenotypes are nervous system and growth/size/body region

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Related Diseases for Infancy Electroclinical Syndrome

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

(show top 50) (show all 111)

#	Related Disease	Score	Top Affiliating Genes
1	benign familial infantile epilepsy	30.5	STXBP1 SCN8A SCN2A SCN1A PRRT2 PNKD
2	west syndrome	29.7	STXBP1 SPTAN1 SLC25A22 SCN8A SCN2A SCN1A
3	epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp	11.1
4	familial or sporadic hemiplegic migraine	10.4	SCN1A PRRT2
5	seizures, benign familial infantile, 3	10.3	SCN2A KCNQ2
6	kcnq3-related disorders	10.3	KCNQ3 KCNQ2
7	convulsions, familial infantile, with paroxysmal choreoathetosis	10.3	SCN8A PRRT2
8	paroxysmal nonkinesigenic dyskinesia 1	10.3	PRRT2 PNKD
9	familial paroxysmal nonkinesigenic dyskinesia	10.3	PRRT2 PNKD
10	episodic kinesigenic dyskinesia 2	10.3	PRRT2 PNKD
11	seizures, benign familial neonatal, 2	10.3	KCNQ3 KCNQ2
12	febrile seizures	10.3	SCN8A SCN2A SCN1A
13	schuurs-hoeijmakers syndrome	10.3	STXBP1 SCN2A KCNQ2
14	seizures, benign familial infantile, 5	10.3	SCN8A KCNQ3
15	chromosome 16p11.2 deletion syndrome	10.3	PRRT2 PCDH19
16	developmental and epileptic encephalopathy 87	10.3	STXBP1 CDKL5
17	developmental and epileptic encephalopathy 60	10.3	SCN2A PRRT2
18	developmental and epileptic encephalopathy 52	10.3	SCN8A SCN1A
19	pitt-hopkins syndrome	10.3	STXBP1 SCN2A CDKL5
20	generalized epilepsy with febrile seizures plus, type 2	10.3	SCN2A SCN1A
21	episodic ataxia, type 8	10.3	SCN2A PRRT2
22	generalized epilepsy with febrile seizures plus, type 7	10.3	SCN1A KCNT1
23	developmental and epileptic encephalopathy 13	10.3	SCN8A SCN2A SCN1A
24	multifocal dystonia	10.3	PRRT2 PNKD
25	paramyotonia congenita of von eulenburg	10.3	SCN8A SCN2A SCN1A
26	progressive familial heart block, type ia	10.3	SCN8A SCN1A
27	paroxysmal extreme pain disorder	10.3	SCN8A SCN2A SCN1A
28	somatoform disorder	10.3	SCN8A SCN1A POMC
29	hyperkalemic periodic paralysis	10.3	SCN8A SCN2A SCN1A
30	spinocerebellar ataxia 27	10.3	SCN8A PNKD
31	developmental and epileptic encephalopathy 43	10.3	SCN1A GABRA1
32	familial periodic paralysis	10.3	SCN2A SCN1A
33	alcohol-related neurodevelopmental disorder	10.3	STXBP1 CDKL5
34	reflex epilepsy	10.3	SCN2A SCN1A PNKD
35	abducens palsy	10.3	POMC KANTR
36	hypokalemic periodic paralysis, type 1	10.2	SCN8A SCN2A SCN1A
37	developmental and epileptic encephalopathy 8	10.2	SLC25A22 KCNT1 ARX
38	migraine, familial hemiplegic, 1	10.2	SCN1A PRRT2
39	bruxism	10.2	STXBP1 KANTR CDKL5
40	migraine, familial hemiplegic, 3	10.2	SCN8A SCN2A SCN1A PRRT2
41	episodic ataxia, type 1	10.2	PNKD KCNQ3 KCNQ2
42	gastroenteritis	10.2	SPTAN1 SCN1A PRRT2
43	familial hemiplegic migraine	10.2	SCN8A SCN2A SCN1A PRRT2
44	status epilepticus	10.2	SCN1A PCDH19 KCNQ2
45	severe congenital neutropenia 8	10.2	SCN8A PCDH19 PCDH10
46	episodic kinesigenic dyskinesia 1	10.2	SCN2A PRRT2 PNKD KCNQ2
47	paine syndrome	10.2	SCN8A SCN2A SCN1A POMC
48	erythromelalgia	10.2	SCN8A SCN2A SCN1A KCNQ2
49	trigeminal neuralgia	10.2	SCN8A SCN1A KANTR
50	alternating hemiplegia of childhood	10.2	SCN2A SCN1A PRRT2 PNKD

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

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Symptoms & Phenotypes for Infancy Electroclinical Syndrome

MGI Mouse Phenotypes related to Infancy Electroclinical Syndrome:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.16	ARX CDKL5 GABRA1 KCNQ2 KCNQ3 KCNT1
2	growth/size/body region	MP:0005378	10	ARX EPRS1 GABRA1 KCNQ2 KCNQ3 MYO18A
3	behavior/neurological	MP:0005386	9.86	ARX CDKL5 GABRA1 KANTR KCNQ2 KCNQ3
4	mortality/aging	MP:0010768	9.47	ARX EPRS1 GABRA1 KCNQ2 KCNQ3 KCNT1

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Drugs & Therapeutics for Infancy Electroclinical Syndrome

Search Clinical Trials, NIH Clinical Center for Infancy Electroclinical Syndrome

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Genetic Tests for Infancy Electroclinical Syndrome

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Anatomical Context for Infancy Electroclinical Syndrome

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Publications for Infancy Electroclinical Syndrome

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Genes for Infancy Electroclinical Syndrome

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

(show all 29)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PRRT2	Proline Rich Transmembrane Protein 2	Protein Coding	8.82	DISEASES inferred ¹⁴
2	EPRS1	Glutamyl-Prolyl-TRNA Synthetase 1	Protein Coding	8.71	DISEASES inferred ¹⁴ ¹⁴
3	STXBP1	Syntaxin Binding Protein 1	Protein Coding	8.43	DISEASES inferred ¹⁴
4	CDKL5	Cyclin Dependent Kinase Like 5	Protein Coding	8.25	DISEASES inferred ¹⁴
5	SCN2A	Sodium Voltage-Gated Channel Alpha Subunit 2	Protein Coding	8.11	DISEASES inferred ¹⁴
6	POMC	Proopiomelanocortin	Protein Coding	7.98	DISEASES inferred ¹⁴
7	KCNQ2	Potassium Voltage-Gated Channel Subfamily Q Member 2	Protein Coding	7.85	DISEASES inferred ¹⁴
8	ARX	Aristaless Related Homeobox	Protein Coding	7.81	DISEASES inferred ¹⁴
9	SCN1A	Sodium Voltage-Gated Channel Alpha Subunit 1	Protein Coding	7.71	DISEASES inferred ¹⁴
10	KCNT1	Potassium Sodium-Activated Channel Subfamily T Member 1	Protein Coding	7.68	DISEASES inferred ¹⁴
11	SCN8A	Sodium Voltage-Gated Channel Alpha Subunit 8	Protein Coding	7.61	DISEASES inferred ¹⁴
12	MYO18A	Myosin XVIIIA	Protein Coding	7.33	DISEASES inferred ¹⁴ ¹⁴
13	PCDH19	Protocadherin 19	Protein Coding	7.12	DISEASES inferred ¹⁴
14	KCNQ3	Potassium Voltage-Gated Channel Subfamily Q Member 3	Protein Coding	7.11	DISEASES inferred ¹⁴
15	SPTAN1	Spectrin Alpha, Non-Erythrocytic 1	Protein Coding	6.88	DISEASES inferred ¹⁴
16	PNKD	PNKD Metallo-Beta-Lactamase Domain Containing	Protein Coding	6.88	DISEASES inferred ¹⁴
17	SLC25A22	Solute Carrier Family 25 Member 22	Protein Coding	6.77	DISEASES inferred ¹⁴
18	PCDH10	Protocadherin 10	Protein Coding	6.68	DISEASES inferred ¹⁴
19	GABRA1	Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1	Protein Coding	6.65	DISEASES inferred ¹⁴
20	KANTR	KANTR Integral Membrane Protein	Protein Coding	6.52	DISEASES inferred ¹⁴
21	ALG13	ALG13 UDP-N-Acetylglucosaminyltransferase Subunit	Protein Coding	6.51	DISEASES inferred ¹⁴
22	ATP1A2	ATPase Na+/K+ Transporting Subunit Alpha 2	Protein Coding	6.47	DISEASES inferred ¹⁴
23	FOXG1	Forkhead Box G1	Protein Coding	6.32	DISEASES inferred ¹⁴
24	SNAP25	Synaptosome Associated Protein 25	Protein Coding	6.3	DISEASES inferred ¹⁴
25	ST3GAL3	ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3	Protein Coding	6.27	DISEASES inferred ¹⁴
26	GABRB3	Gamma-Aminobutyric Acid Type A Receptor Subunit Beta3	Protein Coding	6.27	DISEASES inferred ¹⁴
27	PNPO	Pyridoxamine 5'-Phosphate Oxidase	Protein Coding	6.22	DISEASES inferred ¹⁴
28	SCN1B	Sodium Voltage-Gated Channel Beta Subunit 1	Protein Coding	6.21	DISEASES inferred ¹⁴
29	GRIN2B	Glutamate Ionotropic Receptor NMDA Type Subunit 2B	Protein Coding	6.16	DISEASES inferred ¹⁴

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Variations for Infancy Electroclinical Syndrome

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Expression for Infancy Electroclinical Syndrome

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

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Pathways for Infancy Electroclinical Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶⁴ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶⁴ Cholera Infection ⁶⁴	12.35	SCN8A SCN2A SCN1A KCNT1
2	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.32	SCN8A SCN2A SCN1A POMC
3	Neuroscience ³	12.27	STXBP1 SCN8A SCN2A SCN1A POMC KCNQ2
4	L1CAM interactions ⁶⁶ Show member pathways CHL1 interactions ⁶⁶ Neurofascin interactions ⁶⁶ NrCAM interactions ⁶⁶ Recycling pathway of L1 ⁶⁶	11.91	SPTAN1 SCN8A SCN2A SCN1A KCNQ3 KCNQ2
5	Phase 0 - rapid depolarisation ⁶⁶	11.08	SCN8A SCN2A SCN1A
6	Rett syndrome causing genes ⁷⁴	11.03	STXBP1 SCN8A SCN2A SCN1A CDKL5
7	Dravet syndrome ⁷⁴	10.86	STXBP1 SCN1A PCDH19
8	Syndecan-3-mediated signaling events ⁶¹	10.71	PRRT2 POMC
9	Interaction between L1 and Ankyrins ⁶⁶	10.59	SPTAN1 SCN8A SCN2A SCN1A KCNQ3 KCNQ2

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GO Terms for Infancy Electroclinical Syndrome

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

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016020	10.86	EPRS1 GABRA1 KANTR KCNQ2 KCNQ3 KCNT1
2	membrane	GO:0016021	10.86	GABRA1 KANTR KCNQ2 KCNQ3 KCNT1 PCDH10
3	axon	GO:0030424	10.06	STXBP1 SCN8A SCN2A SCN1A PRRT2
4	voltage-gated sodium channel complex	GO:0001518	9.63	SCN1A SCN2A SCN8A
5	axon initial segment	GO:0043194	9.56	SCN8A SCN1A KCNQ3 KCNQ2
6	sodium channel complex	GO:0034706	9.43	SCN2A SCN1A
7	presynaptic cytosol	GO:0099523	9.37	STXBP1 PNKD
8	node of Ranvier	GO:0033268	9.32	SCN8A SCN2A SCN1A KCNQ3 KCNQ2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	neuronal action potential	GO:0019228	9.88	SCN8A SCN2A SCN1A
2	transmembrane transport	GO:0055085	9.85	SLC25A22 SCN8A SCN2A SCN1A KCNQ3 KCNQ2
3	regulation of monoatomic ion transmembrane transport	GO:0034765	9.85	SCN8A SCN2A SCN1A KCNQ3 KCNQ2
4	membrane depolarization during action potential	GO:0086010	9.8	SCN8A SCN2A SCN1A
5	neuromuscular process controlling posture	GO:0050884	9.73	PNKD PRRT2 SCN1A
6	monoatomic cation transmembrane transport	GO:0098655	9.61	SCN8A SCN2A SCN1A
7	monoatomic ion transmembrane transport	GO:0034220	9.5	SCN8A SCN2A SCN1A KCNQ3 KCNQ2 GABRA1
8	monoatomic ion transport	GO:0006811	9.28	SLC25A22 SCN8A SCN2A SCN1A KCNT1 KCNQ3

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

#	Name	GO ID	Score	Top Affiliating Genes
1	voltage-gated sodium channel activity	GO:0005248	9.73	SCN8A SCN2A SCN1A
2	potassium channel activity	GO:0005267	9.54	KCNT1 KCNQ3 KCNQ2
3	monoatomic cation channel activity	GO:0005261	9.5	SCN8A SCN2A SCN1A
4	voltage-gated monoatomic ion channel activity	GO:0005244	9.5	SCN8A SCN2A SCN1A KCNQ3 KCNQ2
5	sodium channel activity	GO:0005272	9.33	SCN8A SCN2A SCN1A
6	monoatomic ion channel activity	GO:0005216	9.1	SCN8A SCN2A SCN1A KCNQ3 KCNQ2 GABRA1

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Sources for Infancy Electroclinical Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

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⁸ Cosmic

⁹ dbSNP

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¹⁹ GARD

²⁰ GeneAnalytics

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²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

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²⁹ HMDB

³⁰ HPO

³¹ ICD10

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³³ ICD11

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³⁵ IUPHAR

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⁴⁰ MedGen

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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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

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

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⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: INF033 MIFTS: 21	Infancy Electroclinical Syndrome Categories: Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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