MCID: INF033
MIFTS: 21

Infancy Electroclinical Syndrome

Categories: Neuronal diseases
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Aliases & Classifications for Infancy Electroclinical Syndrome

MalaCards integrated aliases for Infancy Electroclinical Syndrome:

Name: Infancy Electroclinical Syndrome 11 14

Classifications:



External Ids:

Disease Ontology 11 DOID:0050703

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

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:



Diseases related to Infancy Electroclinical Syndrome

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

Drugs & Therapeutics for Infancy Electroclinical Syndrome

Search Clinical Trials, NIH Clinical Center for Infancy Electroclinical Syndrome

Genetic Tests for Infancy Electroclinical Syndrome

Anatomical Context for Infancy Electroclinical Syndrome

Publications for Infancy Electroclinical Syndrome

Variations for Infancy Electroclinical Syndrome

Expression for Infancy Electroclinical Syndrome

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

Pathways for Infancy Electroclinical Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 SCN8A SCN2A SCN1A KCNT1
2
Show member pathways
12.32 SCN8A SCN2A SCN1A POMC
3 12.27 STXBP1 SCN8A SCN2A SCN1A POMC KCNQ2
4
Show member pathways
11.91 SPTAN1 SCN8A SCN2A SCN1A KCNQ3 KCNQ2
5 11.08 SCN8A SCN2A SCN1A
6 11.03 STXBP1 SCN8A SCN2A SCN1A CDKL5
7 10.86 STXBP1 SCN1A PCDH19
8 10.71 PRRT2 POMC
9 10.59 SPTAN1 SCN8A SCN2A SCN1A KCNQ3 KCNQ2

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

Sources for Infancy Electroclinical Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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