MCID: UND011
MIFTS: 21

Undetermined Early-Onset Epileptic Encephalopathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Undetermined Early-Onset Epileptic Encephalopathy

MalaCards integrated aliases for Undetermined Early-Onset Epileptic Encephalopathy:

Name: Undetermined Early-Onset Epileptic Encephalopathy 55
Undetermined Eoee 55

Characteristics:

Orphanet epidemiological data:

55
undetermined early-onset epileptic encephalopathy
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Orphanet 55 ORPHA442835
ICD10 via Orphanet 33 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 hypertonia and west syndrome. An important gene associated with Undetermined Early-Onset Epileptic Encephalopathy is PPP3CA (Protein Phosphatase 3 Catalytic Subunit Alpha), and among its related pathways/superpathways are Clathrin-mediated endocytosis and L1CAM interactions. Related phenotypes are behavior/neurological and mortality/aging

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:

# Related Disease Score Top Affiliating Genes
1 hypertonia 10.3 NECAP1 SLC13A5
2 west syndrome 10.1 NTRK2 SCN8A WWOX
3 episodic ataxia, type 1 10.0 CACNA1A KCNA2

Symptoms & Phenotypes for Undetermined Early-Onset Epileptic Encephalopathy

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 SCN8A SLC13A5 SYNJ1 SZT2 AARS AP3B2
2 mortality/aging MP:0010768 9.77 AARS CACNA1A DHDDS DNM1 KCNA2 NTRK2
3 nervous system MP:0003631 9.36 AARS AP3B2 CACNA1A DNM1 KCNA2 NTRK2

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.63 CLTC DNM1 NECAP1 SYNJ1
2
Show member pathways
11.53 CLTC DNM1 SCN8A
3
Show member pathways
11.39 CACNA1A CLTC DNM1
4 11.28 CACNA1A KCNA2 KCNB1 PPP3CA

GO Terms for Undetermined Early-Onset Epileptic Encephalopathy

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.86 AARS AP3B2 CACNA1A CLTC CNKSR2 DHDDS
2 synapse GO:0045202 9.65 CACNA1A DNM1 KCNA2 KCNB1 SYNJ1
3 neuron projection GO:0043005 9.62 CNKSR2 KCNA2 KCNB1 SYNJ1
4 neuronal cell body membrane GO:0032809 9.37 KCNA2 KCNB1
5 clathrin coat of coated pit GO:0030132 9.16 CLTC SYNJ1
6 membrane coat GO:0030117 8.8 AP3B2 DNM1 SYNJ1

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.83 CACNA1A KCNA2 KCNB1 SCN8A SLC13A5
2 transmembrane transport GO:0055085 9.8 CACNA1A KCNA2 KCNB1 SCN8A SLC13A5
3 negative regulation of neuron apoptotic process GO:0043524 9.63 AARS CACNA1A NTRK2
4 regulation of ion transmembrane transport GO:0034765 9.46 CACNA1A KCNA2 KCNB1 SCN8A
5 neuromuscular process GO:0050905 9.37 AARS CACNA1A
6 clathrin-dependent endocytosis GO:0072583 9.32 CLTC DNM1
7 cerebellar Purkinje cell layer development GO:0021680 9.26 AARS CACNA1A
8 dolichyl diphosphate biosynthetic process GO:0006489 8.96 DHDDS NUS1
9 membrane organization GO:0061024 8.92 CLTC NECAP1 SYNJ1 YWHAG

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

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.43 CACNA1A KCNB1 SCN8A
2 delayed rectifier potassium channel activity GO:0005251 9.16 KCNA2 KCNB1
3 transferase activity, transferring alkyl or aryl (other than methyl) groups GO:0016765 8.96 DHDDS NUS1
4 voltage-gated ion channel activity GO:0005244 8.92 CACNA1A KCNA2 KCNB1 SCN8A

Sources for Undetermined Early-Onset Epileptic Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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