MCID: UND011
MIFTS: 19

Undetermined Early-Onset Epileptic Encephalopathy malady

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Undetermined Early-Onset Epileptic Encephalopathy

Aliases & Descriptions for Undetermined Early-Onset Epileptic Encephalopathy:

Name: Undetermined Early-Onset Epileptic Encephalopathy 56
Undetermined Eoee 56

Characteristics:

Orphanet epidemiological data:

56
undetermined early-onset epileptic encephalopathy
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA442835
ICD10 via Orphanet 34 G40.4

Summaries for Undetermined Early-Onset Epileptic Encephalopathy

MalaCards based summary : Undetermined Early-Onset Epileptic Encephalopathy, also known as undetermined eoee, is related to acquired hemangioma and retinal cone dystrophy 3. An important gene associated with Undetermined Early-Onset Epileptic Encephalopathy is SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8), and among its related pathways/superpathways are Transmission across Chemical Synapses and Potassium Channels. Related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Undetermined Early-Onset Epileptic Encephalopathy

Diseases related to Undetermined Early-Onset Epileptic Encephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 acquired hemangioma 10.0 CNKSR2 WWOX
2 retinal cone dystrophy 3 9.9 CACNA1A KCNA2
3 20q11.2 microdeletion syndrome 7.9 AARS CACNA1A CNKSR2 DNM1 EEF1A2 FGF12

Symptoms & Phenotypes for Undetermined Early-Onset Epileptic Encephalopathy

MGI Mouse Phenotypes related to Undetermined Early-Onset Epileptic Encephalopathy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 DNM1 EEF1A2 FGF12 GRIN2D HCN1 KCNA2
2 growth/size/body region MP:0005378 9.65 CACNA1A EEF1A2 GRIN2D HCN1 KCNA2 SCN8A
3 nervous system MP:0003631 9.36 DNM1 EEF1A2 FGF12 GRIN2D HCN1 KCNA2

Drugs & Therapeutics for Undetermined Early-Onset Epileptic Encephalopathy

Search Clinical Trials , NIH Clinical Center for Undetermined Early-Onset Epileptic Encephalopathy

Genetic Tests for Undetermined Early-Onset Epileptic Encephalopathy

Anatomical Context for Undetermined Early-Onset Epileptic Encephalopathy

Publications for Undetermined Early-Onset Epileptic Encephalopathy

Variations for Undetermined Early-Onset Epileptic Encephalopathy

Expression for Undetermined Early-Onset Epileptic Encephalopathy

Search GEO for disease gene expression data for Undetermined Early-Onset Epileptic Encephalopathy.

Pathways for Undetermined Early-Onset Epileptic Encephalopathy

Pathways related to Undetermined Early-Onset Epileptic Encephalopathy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.21 CACNA1A GRIN2D HCN1 KCNA2 KCNB1
2
Show member pathways
11.5 HCN1 KCNA2 KCNB1
3 11.28 CACNA1A GRIN2D KCNA2 KCNB1
4 10.79 DNM1 SYNJ1

GO Terms for Undetermined Early-Onset Epileptic Encephalopathy

Cellular components related to Undetermined Early-Onset Epileptic Encephalopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.62 DNM1 GRIN2D KCNA2 KCNB1
2 dendrite GO:0030425 9.46 CACNA1A HCN1 KCNA2 KCNB1
3 membrane coat GO:0030117 9.26 DNM1 SYNJ1
4 neuronal cell body membrane GO:0032809 8.96 KCNA2 KCNB1
5 neuron projection GO:0043005 8.92 CNKSR2 KCNA2 KCNB1 SYNJ1

Biological processes related to Undetermined Early-Onset Epileptic Encephalopathy according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.97 CACNA1A GRIN2D HCN1 KCNA2 KCNB1 NECAP1
2 transmembrane transport GO:0055085 9.73 CACNA1A HCN1 KCNA2 KCNB1 SCN8A SLC13A5
3 endocytosis GO:0006897 9.7 DNM1 NECAP1 SYNJ1
4 potassium ion transport GO:0006813 9.65 HCN1 KCNA2 KCNB1
5 potassium ion transmembrane transport GO:0071805 9.63 HCN1 KCNA2 KCNB1
6 sodium ion transport GO:0006814 9.61 HCN1 SCN8A SLC13A5
7 neuronal action potential GO:0019228 9.51 KCNA2 SCN8A
8 adult locomotory behavior GO:0008344 9.5 DNM1 FGF12 GRIN2D
9 ion transport GO:0006811 9.5 CACNA1A GRIN2D HCN1 KCNA2 KCNB1 SCN8A
10 membrane depolarization during action potential GO:0086010 9.49 CACNA1A SCN8A
11 cerebellar Purkinje cell layer development GO:0021680 9.4 AARS CACNA1A
12 neuromuscular process GO:0050905 9.33 AARS CACNA1A FGF12
13 regulation of ion transmembrane transport GO:0034765 9.1 CACNA1A GRIN2D HCN1 KCNA2 KCNB1 SCN8A

Molecular functions related to Undetermined Early-Onset Epileptic Encephalopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.43 HCN1 KCNA2 KCNB1
2 sodium channel activity GO:0005272 9.4 HCN1 SCN8A
3 voltage-gated sodium channel activity GO:0005248 9.37 HCN1 SCN8A
4 voltage-gated ion channel activity GO:0005244 9.35 CACNA1A HCN1 KCNA2 KCNB1 SCN8A
5 voltage-gated potassium channel activity GO:0005249 9.33 HCN1 KCNA2 KCNB1
6 delayed rectifier potassium channel activity GO:0005251 9.32 KCNA2 KCNB1
7 ion channel activity GO:0005216 9.02 CACNA1A GRIN2D HCN1 KCNB1 SCN8A

Sources for Undetermined Early-Onset Epileptic Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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