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MCID: INF033
MIFTS: 22

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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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 SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Neuroscience and L1CAM interactions. Related phenotypes are behavior/neurological and growth/size/body region

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Related Diseases for Infancy Electroclinical Syndrome

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 benign familial infantile epilepsy 31.4 KCNQ2 PRRT2 SCN1B SCN2A
2 west syndrome 30.1 ARX CDKL5 KCNQ2 POMC SCN1A SCN2A
3 febrile infection-related epilepsy syndrome 10.2 PCDH19 SCN1A
4 myoclonic epilepsy of infancy 10.2 GABRG2 SCN1A
5 familial or sporadic hemiplegic migraine 10.1 PRRT2 SCN1A
6 generalized epilepsy with febrile seizures plus, type 1 10.1 SCN1A SCN1B
7 hemiplegic migraine 10.1 PRRT2 SCN1A
8 epilepsy with generalized tonic-clonic seizures 10.1 SCN1A SCN2A TBC1D24
9 malignant migrating partial seizures of infancy 10.1 SCN1A SCN2A TBC1D24
10 landau-kleffner syndrome 10.1 POMC TBC1D24
11 adolescence-adult electroclinical syndrome 10.1 GABRG2 SCN1A TBC1D24
12 childhood electroclinical syndrome 10.1 GABRG2 POMC TBC1D24
13 early onset absence epilepsy 10.1 PRRT2 SCN1B
14 autosomal dominant non-syndromic intellectual disability 10.0 SCN2A STXBP1 TBC1D24
15 childhood absence epilepsy 10.0 GABRG2 PCDH19 SCN1B
16 epilepsy, idiopathic generalized 10 10.0 GABRG2 SCN1A SCN2A TBC1D24
17 benign neonatal seizures 9.9 KCNQ2 SCN2A
18 mental retardation, x-linked, syndromic, hedera type 9.9 ARX SCN2A
19 febrile seizures 9.9 GABRG2 KCNQ2 SCN1A SCN1B
20 epilepsy, nocturnal frontal lobe, 1 9.9 GABRG2 KCNQ2 SCN1A SCN1B
21 epileptic encephalopathy, early infantile, 9 9.9 CDKL5 PCDH10 PCDH19 SCN1A
22 lennox-gastaut syndrome 9.9 GABRG2 POMC SCN1A STXBP1 TBC1D24
23 focal epilepsy 9.8 CDKL5 GABRG2 SCN1A SCN2A TBC1D24
24 benign familial neonatal epilepsy 9.8 KCNQ2 PRRT2 SCN2A TBC1D24
25 infantile epileptic encephalopathy 9.8 CDKL5 PCDH19 SCN1A SCN2A STXBP1
26 seizures, benign familial infantile, 3 9.8 GABRG2 KCNQ2 SCN1A SCN1B SCN2A
27 epileptic encephalopathy, early infantile, 1 9.8 ARX KCNQ2 TBC1D24
28 specific developmental disorder 9.8 ARX CDKL5 POMC
29 seizure disorder 9.7 CDKL5 KCNQ2 SCN1A SCN2A TBC1D24
30 generalized epilepsy with febrile seizures plus 9.7 GABRG2 KCNQ2 SCN1A SCN1B SCN2A TBC1D24
31 encephalopathy 9.6 ARX CDKL5 PCDH19 SCN1A STXBP1
32 benign epilepsy with centrotemporal spikes 9.6 GABRG2 KCNQ2 PRRT2 SCN1B SCN2A TBC1D24
33 visual epilepsy 9.6 CDKL5 KCNQ2 PRRT2 SCN1A SCN2A STXBP1
34 autism 9.5 ARX CDKL5 SCN1A SCN2A
35 early myoclonic encephalopathy 9.4 ARX CDKL5 GABRG2 SCN1A SCN1B SHOX2
36 early infantile epileptic encephalopathy 9.2 ARX CDKL5 KCNQ2 PCDH19 SCN1A SCN2A
37 neonatal period electroclinical syndrome 9.1 ARX CDKL5 KCNQ2 SCN1A SCN2A SHOX2
38 epileptic encephalopathy, early infantile, 6 9.1 CDKL5 GABRG2 KCNQ2 PCDH10 PCDH19 SCN1A
39 epilepsy, idiopathic generalized 8.9 ARX CDKL5 GABRG2 KCNQ2 PCDH10 PCDH19
40 epilepsy 8.8 ARX CDKL5 GABRG2 KCNQ2 PCDH19 PRRT2

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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MGI Mouse Phenotypes related to Infancy Electroclinical Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 ARX CDKL5 GABRG2 KCNQ2 PCDH19 POMC
2 growth/size/body region MP:0005378 9.81 ARX GABRG2 KCNQ2 PCDH10 POMC SCN1A
3 mortality/aging MP:0010768 9.65 ARX GABRG2 KCNQ2 PCDH10 POMC SCN1A
4 nervous system MP:0003631 9.44 ARX CDKL5 GABRG2 KCNQ2 PCDH10 PCDH19
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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
Neuroscience 4
11.97 KCNQ2 POMC SCN1A SCN1B SCN2A STXBP1
2
L1CAM interactions 66
Show member pathways
 11.55 KCNQ2 SCN1A SCN1B SCN2A
3
Phase 0 - rapid depolarisation 66
Show member pathways
 11.31 SCN1A SCN1B SCN2A
4
Interaction between L1 and Ankyrins 66
10.4 KCNQ2 SCN1A SCN1B SCN2A
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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 GABRG2 PRRT2 SCN1A SCN2A STXBP1
2 intercalated disc GO:0014704 9.54 SCN1A SCN1B SCN2A
3 T-tubule GO:0030315 9.5 SCN1A SCN1B SCN2A
4 axon initial segment GO:0043194 9.43 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 10.1 GABRG2 KCNQ2 PCDH10 PCDH19 PRRT2 SCN1A

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.8 ARX KCNQ2 SCN2A SHOX2
2 ion transport GO:0006811 9.72 GABRG2 KCNQ2 SCN1A SCN1B SCN2A
3 sodium ion transport GO:0006814 9.63 SCN1A SCN1B SCN2A
4 ion transmembrane transport GO:0034220 9.56 GABRG2 KCNQ2 SCN1A SCN2A
5 regulation of cilium assembly GO:1902017 9.51 CDKL5 TBC1D24
6 neuronal action potential GO:0019228 9.48 SCN1A SCN2A
7 cardiac muscle cell action potential involved in contraction GO:0086002 9.43 SCN1A SCN1B
8 membrane depolarization during action potential GO:0086010 9.4 SCN1A SCN2A
9 neuromuscular process controlling posture GO:0050884 9.37 PRRT2 SCN1A
10 neuronal action potential propagation GO:0019227 9.16 SCN1A SCN1B
11 sodium ion transmembrane transport GO:0035725 9.13 SCN1A SCN1B SCN2A
12 regulation of ion transmembrane transport GO:0034765 8.92 KCNQ2 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 9.5 GABRG2 SCN1A SCN2A
2 sodium channel activity GO:0005272 9.33 SCN1A SCN1B SCN2A
3 syntaxin-1 binding GO:0017075 9.26 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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Sources for Infancy Electroclinical Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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