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MCID: INF033
MIFTS: 21

Infancy Electroclinical Syndrome

Categories: Neuronal diseases
Genes Related diseases Pathways
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Aliases & Classifications for Infancy Electroclinical Syndrome

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MalaCards integrated aliases for Infancy Electroclinical Syndrome:

Name: Infancy Electroclinical Syndrome 12 15

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases
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External Ids:

Disease Ontology 12 DOID:0050703
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Summaries for Infancy Electroclinical Syndrome

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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 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 Neuroscience. Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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Related Diseases for Infancy Electroclinical Syndrome

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Diseases in the Electroclinical Syndrome family:

Infancy Electroclinical Syndrome

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

(show all 34)
# Related Disease Score Top Affiliating Genes
1 benign familial infantile epilepsy 31.0 CLCN6 KCNQ2 PRRT2 SCN2A SCN8A
2 west syndrome 28.6 ALG13 ARX CDKL5 KCNQ2 KCNT1 POMC
3 mental retardation, x-linked, syndromic, hedera type 10.2 ARX SCN2A
4 epileptic encephalopathy, early infantile, 1 10.2 ARX KCNQ2
5 benign neonatal seizures 10.2 KCNQ2 SCN2A
6 convulsions, familial infantile, with paroxysmal choreoathetosis 10.2 PRRT2 SCN8A
7 familial or sporadic hemiplegic migraine 10.1 PRRT2 SCN1A
8 hemiplegic migraine 10.1 PRRT2 SCN1A
9 benign familial neonatal epilepsy 10.1 KCNQ2 PRRT2 SCN2A
10 coffin-siris syndrome 4 10.1 SCN2A SCN8A
11 specific developmental disorder 10.1 ARX CDKL5 POMC
12 epilepsy with generalized tonic-clonic seizures 10.1 SCN1A SCN2A
13 undetermined early-onset epileptic encephalopathy 10.0 SCN8A STXBP1
14 x-linked non-specific intellectual disability 10.0 ALG13 ARX
15 episodic ataxia 10.0 PRRT2 SCN2A
16 myoclonic epilepsy of infancy 10.0 SCN1A SCN8A
17 epilepsy, nocturnal frontal lobe, 1 10.0 KCNQ2 SCN1A
18 epileptic encephalopathy, early infantile, 9 10.0 CDKL5 SCN1A
19 seizures, benign familial infantile, 3 9.9 KCNQ2 SCN1A SCN2A
20 early myoclonic encephalopathy 9.9 ARX CDKL5 SCN1A
21 malignant migrating partial seizures of infancy 9.9 KCNT1 SCN1A SCN2A
22 migraine with aura 9.9 PRRT2 SCN1A
23 epilepsy, idiopathic generalized 9.9 KCNQ2 SCN1A SCN2A
24 seizure disorder 9.7 CDKL5 KCNQ2 SCN1A SCN2A
25 lennox-gastaut syndrome 9.7 ALG13 POMC SCN1A STXBP1
26 generalized epilepsy with febrile seizures plus 9.6 KCNQ2 SCN1A SCN2A SCN8A
27 visual epilepsy 9.4 CDKL5 KCNQ2 PRRT2 SCN1A SCN2A STXBP1
28 benign epilepsy with centrotemporal spikes 9.4 KCNQ2 KCNT1 PRRT2 SCN2A SPTAN1
29 encephalopathy 9.3 ARX CDKL5 SCN1A SPTAN1 STXBP1
30 epileptic encephalopathy, early infantile, 6 9.0 CDKL5 KCNQ2 KCNT1 SCN1A SCN2A SCN8A
31 focal epilepsy 9.0 CDKL5 KCNT1 SCN1A SCN2A SCN8A SPTAN1
32 neonatal period electroclinical syndrome 8.8 ARX CDKL5 KCNQ2 KCNT1 SCN1A SCN2A
33 epilepsy 8.7 ARX CDKL5 KCNQ2 KCNT1 PRRT2 SCN1A
34 early infantile epileptic encephalopathy 8.4 ARX CDKL5 KCNQ2 KCNT1 SCN1A SCN2A

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



Diseases related to Infancy Electroclinical Syndrome
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Symptoms & Phenotypes for Infancy Electroclinical Syndrome

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GenomeRNAi Phenotypes related to Infancy Electroclinical Syndrome according to GeneCards Suite gene sharing:

27 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.68 POMC
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.68 POMC
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.68 SPTAN1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.68 SCN2A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.68 SPTAN1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.68 POMC
7 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.68 SCN2A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.68 SPTAN1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.68 SPTAN1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.68 SCN2A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.68 SCN2A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.68 POMC
13 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.68 POMC
14 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.68 SCN2A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.68 SCN2A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.68 SPTAN1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.68 SCN2A SPTAN1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.68 SCN2A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.68 POMC
20 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.68 POMC SCN2A SPTAN1

MGI Mouse Phenotypes related to Infancy Electroclinical Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 ARX CDKL5 CLCN6 KCNQ2 KCNT1 POMC
2 nervous system MP:0003631 9.4 ARX CDKL5 CLCN6 KCNQ2 KCNT1 POMC
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Drugs & Therapeutics for Infancy Electroclinical Syndrome

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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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Variations for Infancy Electroclinical Syndrome

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Expression for Infancy Electroclinical Syndrome

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

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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 65
Show member pathways
 12.25 CLCN6 KCNT1 SCN1A SCN2A SCN8A
2
Neuroscience 4
12.17 KCNQ2 POMC SCN1A SCN2A SCN8A STXBP1
3
L1CAM interactions 67
Show member pathways
 11.45 KCNQ2 SCN1A SCN2A SCN8A SPTAN1
4
Phase 0 - rapid depolarisation 67
Show member pathways
 11.37 SCN1A SCN2A SCN8A
5
Interaction between L1 and Ankyrins 67
10.5 KCNQ2 SCN1A SCN2A SCN8A SPTAN1
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GO Terms for Infancy Electroclinical Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.65 PRRT2 SCN1A SCN2A SCN8A STXBP1
2 intercalated disc GO:0014704 9.4 SCN1A SCN2A
3 T-tubule GO:0030315 9.37 SCN1A SCN2A
4 axon initial segment GO:0043194 9.33 KCNQ2 SCN1A SCN8A
5 sodium channel complex GO:0034706 9.32 SCN1A SCN2A
6 voltage-gated sodium channel complex GO:0001518 9.13 SCN1A SCN2A SCN8A
7 node of Ranvier GO:0033268 8.92 KCNQ2 SCN1A SCN2A SCN8A

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.8 CLCN6 KCNQ2 SCN1A SCN2A SCN8A
2 nervous system development GO:0007399 9.78 ARX KCNQ2 SCN2A SCN8A
3 ion transport GO:0006811 9.73 CLCN6 KCNQ2 KCNT1 SCN1A SCN2A SCN8A
4 sodium ion transport GO:0006814 9.63 SCN1A SCN2A SCN8A
5 regulation of ion transmembrane transport GO:0034765 9.62 KCNQ2 SCN1A SCN2A SCN8A
6 sodium ion transmembrane transport GO:0035725 9.54 SCN1A SCN2A SCN8A
7 myelination GO:0042552 9.49 SCN2A SCN8A
8 neuromuscular process controlling posture GO:0050884 9.43 PRRT2 SCN1A
9 ion transmembrane transport GO:0034220 9.35 CLCN6 KCNQ2 SCN1A SCN2A SCN8A
10 neuronal action potential GO:0019228 9.33 SCN1A SCN2A SCN8A
11 membrane depolarization during action potential GO:0086010 8.8 SCN1A SCN2A SCN8A

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 SCN1A SCN2A SCN8A
2 sodium channel activity GO:0005272 9.33 SCN1A SCN2A SCN8A
3 syntaxin-1 binding GO:0017075 9.32 PRRT2 STXBP1
4 voltage-gated ion channel activity GO:0005244 9.26 KCNQ2 SCN1A SCN2A SCN8A
5 voltage-gated sodium channel activity GO:0005248 8.8 SCN1A SCN2A SCN8A
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Sources for Infancy Electroclinical Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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