MCID: INF033
MIFTS: 23

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 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp and benign familial infantile epilepsy. An important gene associated with Infancy Electroclinical Syndrome is PRRT2 (Proline Rich Transmembrane Protein 2), and among its related pathways/superpathways are Developmental Biology and Cardiac conduction. Affiliated tissues include heart and temporal lobe, and related phenotypes are behavior/neurological 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 102)
# Related Disease Score Top Affiliating Genes
1 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 32.2 SCN2A PRRT2
2 benign familial infantile epilepsy 30.2 STXBP1 SCN8A SCN2A SCN1B SCN1A PRRT2
3 west syndrome 29.2 STXBP1 SPTAN1 SLC25A22 SCN8A SCN2A SCN1B
4 stxbp1 encephalopathy 10.4 STXBP1 CDKL5
5 myoclonic epilepsy of infancy 10.4 SCN8A SCN1A
6 genetic epilepsy with febrile seizures plus 10.4 SCN2A SCN1A
7 febrile infection-related epilepsy syndrome 10.4 SCN1A PCDH19
8 paroxysmal choreoathetosis 10.4 PRRT2 PCDH19
9 convulsions, familial infantile, with paroxysmal choreoathetosis 10.4 SCN8A PRRT2
10 kcnq2-related disorders 10.4 KCNQ3 KCNQ2
11 sporadic hemiplegic migraine 10.3 SCN1A ATP1A2
12 seizures, benign familial infantile, 5 10.3 SCN8A KCNQ3
13 seizures, benign familial neonatal, 2 10.3 KCNQ3 KCNQ2
14 reflex epilepsy 10.3 SCN2A SCN1A
15 aicardi syndrome 10.3 PCDH19 CDKL5 ARX
16 chromosome 16p11.2 deletion syndrome 10.3 PRRT2 PCDH19
17 paroxysmal dyskinesia 10.3 SCN8A PRRT2 PCDH19
18 convulsions benign familial neonatal dominant form 10.3 KCNQ3 KCNQ2
19 low-grade astrocytoma 10.3 SCN8A SCN2A SCN1A
20 trigeminal nerve disease 10.3 SCN8A SCN2A SCN1A
21 verbal auditory agnosia 10.3 SCN1B ARX
22 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.3 KCNQ3 KCNQ2
23 developmental and epileptic encephalopathy 4 10.3 STXBP1 CDKL5
24 hyperkalemic periodic paralysis 10.3 SCN8A SCN2A SCN1A
25 progressive familial heart block, type ia 10.3 SCN8A SCN1A
26 developmental and epileptic encephalopathy 7 10.3 KCNT1 KCNQ3 KCNQ2
27 erythromelalgia 10.3 SCN8A SCN2A SCN1A
28 febrile seizures, familial, 6 10.3 SCN1B SCN1A
29 coffin-siris syndrome 4 10.3 SCN8A SCN2A
30 seizures, benign familial infantile, 3 10.3 SCN2A KCNQ2 ATP1A2
31 migraine, familial hemiplegic, 2 10.3 SCN1A PRRT2 ATP1A2
32 migraine, familial hemiplegic, 1 10.3 SCN1A PRRT2 ATP1A2
33 neuronal migration disorders 10.3 SCN1A ATP1A2 ARX
34 episodic kinesigenic dyskinesia 1 10.3 PRRT2 KCNQ2 GABRA1
35 febrile seizures, familial, 5 10.2 SCN2A SCN1B SCN1A
36 familial hemiplegic migraine 10.2 SCN1A PRRT2 ATP1A2
37 alternating hemiplegia of childhood 10.2 SCN1A PRRT2 ATP1A2
38 generalized epilepsy with febrile seizures plus, type 1 10.2 SCN1B SCN1A
39 generalized epilepsy with febrile seizures plus, type 7 10.2 SCN8A SCN1B SCN1A
40 status epilepticus 10.2 SCN1A PCDH19 KCNQ2
41 epilepsy, familial temporal lobe, 5 10.2 SCN1B SCN1A
42 specific developmental disorder 10.2 SCN1A POMC PCDH19 CDKL5
43 familial or sporadic hemiplegic migraine 10.2 SCN1A PRRT2 ATP1A2
44 migraine, familial hemiplegic, 3 10.2 SCN2A SCN1A PRRT2 ATP1A2
45 malignant migrating partial seizures of infancy 10.2 SLC25A22 SCN2A SCN1A KCNT1
46 pyridoxamine 5-prime-phosphate oxidase deficiency 10.2 PNPO KCNQ2
47 developmental and epileptic encephalopathy 13 10.2 SCN8A SCN2A SCN1B SCN1A
48 febrile seizures, familial, 8 10.1 SCN1B SCN1A
49 paramyotonia congenita of von eulenburg 10.1 SCN8A SCN2A SCN1B SCN1A
50 paroxysmal extreme pain disorder 10.1 SCN8A SCN2A SCN1B SCN1A

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 10.13 ARX ATP1A2 CDKL5 GABRA1 KCNQ2 KCNQ3
2 growth/size/body region MP:0005378 9.97 ARX ATP1A2 GABRA1 KCNQ2 KCNQ3 PCDH10
3 mortality/aging MP:0010768 9.77 ARX ATP1A2 GABRA1 KCNQ2 KCNQ3 PCDH10
4 nervous system MP:0003631 9.55 ARX ATP1A2 CDKL5 GABRA1 KCNQ2 KCNQ3

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

MalaCards organs/tissues related to Infancy Electroclinical Syndrome:

40
Heart, Temporal Lobe

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
13.19 SPTAN1 SCN8A SCN2A SCN1B SCN1A KCNQ3
2
Show member pathways
12.53 SCN8A SCN2A SCN1B SCN1A ATP1A2
3
Show member pathways
12.39 SCN8A SCN2A SCN1B SCN1A KCNT1 ATP1A2
4
Show member pathways
12.35 SCN8A SCN2A SCN1B SCN1A POMC
5 12.23 STXBP1 SCN8A SCN2A SCN1B SCN1A POMC
6
Show member pathways
11.6 SPTAN1 SCN8A SCN2A SCN1B SCN1A KCNQ3
7
Show member pathways
11.43 SCN8A SCN2A SCN1B SCN1A
8 10.64 SPTAN1 SCN8A SCN2A SCN1B SCN1A KCNQ3

GO Terms for Infancy Electroclinical Syndrome

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.39 STXBP1 SPTAN1 SLC25A22 SCN8A SCN2A SCN1B
2 integral component of membrane GO:0016021 10.29 SLC25A22 SCN8A SCN2A SCN1B SCN1A PRRT2
3 plasma membrane GO:0005886 10.25 STXBP1 SCN8A SCN2A SCN1B SCN1A PRRT2
4 integral component of plasma membrane GO:0005887 10.04 SCN2A SCN1B PCDH19 PCDH10 KCNQ3 KCNQ2
5 synapse GO:0045202 9.93 PRRT2 KCNQ3 KCNQ2 GABRA1 CDKL5 ATP1A2
6 axon GO:0030424 9.88 STXBP1 SCN8A SCN2A SCN1B SCN1A PRRT2
7 intercalated disc GO:0014704 9.67 SCN2A SCN1B SCN1A ATP1A2
8 T-tubule GO:0030315 9.62 SCN2A SCN1B SCN1A ATP1A2
9 axon initial segment GO:0043194 9.46 SCN8A SCN1A KCNQ3 KCNQ2
10 sodium channel complex GO:0034706 9.43 SCN2A SCN1B SCN1A
11 voltage-gated sodium channel complex GO:0001518 9.26 SCN8A SCN2A SCN1B SCN1A
12 node of Ranvier GO:0033268 9.1 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.97 SLC25A22 SCN8A SCN2A SCN1A KCNQ3 KCNQ2
2 potassium ion transport GO:0006813 9.78 KCNT1 KCNQ3 KCNQ2 ATP1A2
3 potassium ion transmembrane transport GO:0071805 9.76 KCNT1 KCNQ3 KCNQ2 ATP1A2
4 sodium ion transport GO:0006814 9.72 SCN8A SCN2A SCN1B SCN1A ATP1A2
5 cation transmembrane transport GO:0098655 9.71 SCN8A SCN2A SCN1A ATP1A2
6 sodium ion transmembrane transport GO:0035725 9.65 SCN8A SCN2A SCN1B SCN1A ATP1A2
7 regulation of ion transmembrane transport GO:0034765 9.63 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2
8 neuronal action potential GO:0019228 9.61 SCN8A SCN2A SCN1A
9 cardiac muscle cell action potential involved in contraction GO:0086002 9.56 SCN1B SCN1A
10 ion transmembrane transport GO:0034220 9.56 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2
11 neuromuscular process controlling posture GO:0050884 9.55 SCN1A PRRT2
12 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.54 SCN1B ATP1A2
13 membrane depolarization during action potential GO:0086010 9.54 SCN8A SCN2A SCN1A
14 locomotion GO:0040011 9.52 SCN1B ATP1A2
15 neuronal action potential propagation GO:0019227 9.51 SCN1B SCN1A
16 ion transport GO:0006811 9.32 SLC25A22 SCN8A SCN2A SCN1B SCN1A KCNT1

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 9.63 SCN8A SCN2A SCN1A KCNQ3 KCNQ2 GABRA1
2 sodium channel activity GO:0005272 9.56 SCN8A SCN2A SCN1B SCN1A
3 potassium channel activity GO:0005267 9.54 KCNT1 KCNQ3 KCNQ2
4 cation channel activity GO:0005261 9.5 SCN8A SCN2A SCN1A
5 voltage-gated sodium channel activity GO:0005248 9.26 SCN8A SCN2A SCN1B SCN1A
6 voltage-gated ion channel activity GO:0005244 9.1 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2

Sources for Infancy Electroclinical Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....