MCID: INF033
MIFTS: 21

Infancy Electroclinical Syndrome

Categories: Neuronal diseases

Aliases & Classifications for Infancy Electroclinical Syndrome

MalaCards integrated aliases for Infancy Electroclinical Syndrome:

Name: Infancy Electroclinical Syndrome 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050703

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

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:



Diseases related to Infancy Electroclinical Syndrome

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

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
12.21 KCNT1 SCN1A SCN1B SCN2A
2 11.97 KCNQ2 POMC SCN1A SCN1B SCN2A STXBP1
3
Show member pathways
11.55 KCNQ2 SCN1A SCN1B SCN2A
4
Show member pathways
11.31 SCN1A SCN1B SCN2A
5 10.4 KCNQ2 SCN1A SCN1B SCN2A

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

Sources for Infancy Electroclinical Syndrome

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
Content
Loading form....