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 ¹² ¹⁵

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0050703

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Summaries for Infancy Electroclinical Syndrome

Disease Ontology : ¹² 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 febrile infection-related epilepsy syndrome. An important gene associated with Infancy Electroclinical Syndrome is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Neuroscience. Related phenotypes are behavior/neurological and nervous system

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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 all 38)

#	Related Disease	Score	Top Affiliating Genes
1	benign familial infantile epilepsy	31.3	KCNQ2 PRRT2 SCN1B SCN2A
2	febrile infection-related epilepsy syndrome	10.6	PCDH19 SCN1A
3	familial or sporadic hemiplegic migraine	10.5	PRRT2 SCN1A
4	myoclonic epilepsy of infancy	10.5	GABRG2 SCN1A
5	generalized epilepsy with febrile seizures plus, type 1	10.4	SCN1A SCN1B
6	epilepsy with generalized tonic-clonic seizures	10.4	SCN1A SCN2A TBC1D24
7	benign neonatal seizures	10.4	KCNQ2 SCN2A
8	landau-kleffner syndrome	10.3	POMC TBC1D24
9	adolescence-adult electroclinical syndrome	10.3	GABRG2 SCN1A TBC1D24
10	early onset absence epilepsy	10.0	PRRT2 SCN1B
11	childhood absence epilepsy	10.0	GABRG2 PCDH19 SCN1B
12	epilepsy, idiopathic generalized 10	10.0	GABRG2 SCN1A SCN2A TBC1D24
13	epilepsy, nocturnal frontal lobe, 1	10.0	GABRG2 KCNQ2 SCN1A SCN1B
14	benign familial neonatal epilepsy	10.0	KCNQ2 PRRT2 SCN2A TBC1D24
15	febrile seizures	9.9	GABRG2 KCNQ2 SCN1A SCN1B
16	hemiplegic migraine	9.9	PRRT2 SCN1A
17	childhood electroclinical syndrome	9.8	GABRG2 KCNQ2 POMC TBC1D24
18	malignant migrating partial seizures of infancy	9.8	KCNT1 SCN1A SCN2A TBC1D24
19	epileptic encephalopathy, early infantile, 1	9.7	ARX KCNQ2 TBC1D24
20	seizures, benign familial infantile, 3	9.7	GABRG2 KCNQ2 SCN1A SCN1B SCN2A
21	mental retardation, x-linked, syndromic, hedera type	9.6	ARX SCN2A
22	lennox-gastaut syndrome	9.4	KCNQ2 POMC SCN1A STXBP1 TBC1D24
23	encephalopathy	9.4	CDKL5 PCDH19 SCN1A STXBP1
24	generalized epilepsy with febrile seizures plus	9.4	GABRG2 KCNQ2 SCN1A SCN1B SCN2A TBC1D24
25	seizure disorder	9.3	CDKL5 KCNQ2 SCN1A SCN2A STXBP1
26	specific developmental disorder	9.1	ARX CDKL5 POMC
27	epileptic encephalopathy, early infantile, 9	9.0	CDKL5 KCNQ2 PCDH10 PCDH19 SCN1A
28	focal epilepsy	8.8	CDKL5 GABRG2 KCNT1 SCN1A SCN2A TBC1D24
29	early myoclonic encephalopathy	8.7	ARX CDKL5 GABRG2 SCN1A SCN1B
30	benign epilepsy with centrotemporal spikes	8.6	GABRG2 KCNQ2 KCNT1 PRRT2 SCN1B SCN2A
31	infantile epileptic encephalopathy	8.3	ARX CDKL5 PCDH19 SCN1A SCN2A STXBP1
32	neonatal period electroclinical syndrome	8.0	ARX CDKL5 KCNQ2 SCN1A SCN2A STXBP1
33	epilepsy	7.5	ARX CDKL5 GABRG2 KCNQ2 KCNT1 SCN1A
34	epileptic encephalopathy, early infantile, 15	7.4	ARX CDKL5 KCNQ2 KCNT1 PCDH19 SCN1A
35	west syndrome	6.9	ARX CDKL5 KCNQ2 KCNT1 POMC SCN1A
36	trehalase deficiency	6.5	ARX CDKL5 KCNQ2 KCNT1 PCDH19 POMC
37	epileptic encephalopathy, early infantile, 6	6.5	CDKL5 GABRG2 KCNQ2 KCNT1 PCDH10 PCDH19
38	epilepsy, idiopathic generalized	6.2	ARX CDKL5 GABRG2 KCNQ2 PCDH10 PCDH19

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:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.73	STXBP1 ARX CDKL5 GABRG2 KCNQ2 KCNT1
2	nervous system	MP:0003631	9.44	STXBP1 ARX CDKL5 GABRG2 KCNQ2 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 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SCN1A	Sodium Voltage-Gated Channel Alpha Subunit 1	Protein Coding	20.33	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
2	TBC1D24	TBC1 Domain Family Member 24	Protein Coding	19.19	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	KCNQ2	Potassium Voltage-Gated Channel Subfamily Q Member 2	Protein Coding	18.11	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	SCN2A	Sodium Voltage-Gated Channel Alpha Subunit 2	Protein Coding	17.77	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	SCN1B	Sodium Voltage-Gated Channel Beta Subunit 1	Protein Coding	17.76	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	PCDH19	Protocadherin 19	Protein Coding	17.69	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	GABRG2	Gamma-Aminobutyric Acid Type A Receptor Gamma2 Subunit	Protein Coding	17.66	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	PRRT2	Proline Rich Transmembrane Protein 2	Protein Coding	17.55	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	POMC	Proopiomelanocortin	Protein Coding	17.49	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	STXBP1	Syntaxin Binding Protein 1	Protein Coding	17.35	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	CDKL5	Cyclin Dependent Kinase Like 5	Protein Coding	17.26	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	PCDH10	Protocadherin 10	Protein Coding	17.18	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
13	ARX	Aristaless Related Homeobox	Protein Coding	16.65	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
14	KCNT1	Potassium Sodium-Activated Channel Subfamily T Member 1	Protein Coding	16.51	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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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	12.21	KCNT1 SCN1A SCN1B SCN2A
2	Neuroscience ⁴	11.97	KCNQ2 POMC SCN1A SCN1B SCN2A STXBP1
3	L1CAM interactions ⁶⁶ Show member pathways CHL1 interactions ⁶⁶ Neurofascin interactions ⁶⁶ NrCAM interactions ⁶⁶	11.55	KCNQ2 SCN1A SCN1B SCN2A
4	Phase 0 - rapid depolarisation ⁶⁶ Show member pathways Phase 2 - plateau phase ⁶⁶	11.31	SCN1A SCN1B SCN2A
5	Interaction between L1 and Ankyrins ⁶⁶	10.4	KCNQ2 SCN1A SCN1B SCN2A

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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	axon	GO:0030424	9.73	GABRG2 SCN1A SCN2A STXBP1
2	intercalated disc	GO:0014704	9.5	SCN1A SCN1B SCN2A
3	T-tubule	GO:0030315	9.43	SCN1A SCN1B SCN2A
4	axon initial segment	GO:0043194	9.4	KCNQ2 SCN1A
5	voltage-gated sodium channel complex	GO:0001518	9.33	SCN1A SCN1B SCN2A
6	sodium channel complex	GO:0034706	9.13	SCN1A SCN1B SCN2A
7	node of Ranvier	GO:0033268	8.92	KCNQ2 SCN1A SCN1B SCN2A
8	plasma membrane	GO:0005886	10.11	GABRG2 KCNQ2 KCNT1 PCDH10 PCDH19 PRRT2

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transmembrane transport	GO:0034220	9.67	GABRG2 KCNQ2 SCN1A SCN2A
2	sodium ion transport	GO:0006814	9.65	SCN1A SCN1B SCN2A
3	nervous system development	GO:0007399	9.65	ARX KCNQ2 PCDH10 PCDH19 SCN2A
4	regulation of membrane potential	GO:0042391	9.63	GABRG2 KCNT1 SCN1A
5	membrane depolarization during action potential	GO:0086010	9.51	SCN1A SCN2A
6	sodium ion transmembrane transport	GO:0035725	9.5	SCN1A SCN1B SCN2A
7	neuronal action potential	GO:0019228	9.49	SCN1A SCN2A
8	cardiac muscle cell action potential involved in contraction	GO:0086002	9.43	SCN1A SCN1B
9	neuromuscular process controlling posture	GO:0050884	9.4	PRRT2 SCN1A
10	regulation of ion transmembrane transport	GO:0034765	9.26	KCNQ2 SCN1A SCN1B SCN2A
11	neuronal action potential propagation	GO:0019227	9.16	SCN1A SCN1B
12	ion transport	GO:0006811	9.1	GABRG2 KCNQ2 KCNT1 SCN1A SCN1B SCN2A

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

#	Name	GO ID	Score	Top Affiliating Genes
1	ion channel activity	GO:0005216	9.43	GABRG2 SCN1A SCN2A
2	sodium channel activity	GO:0005272	9.33	SCN1A SCN1B SCN2A
3	syntaxin-1 binding	GO:0017075	9.32	PRRT2 STXBP1
4	voltage-gated ion channel activity	GO:0005244	9.26	KCNQ2 SCN1A SCN1B SCN2A
5	voltage-gated sodium channel activity	GO:0005248	8.8	SCN1A SCN1B SCN2A

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