MCID: UND011
MIFTS: 19

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 59 6
Undetermined Eoee 59

Characteristics:

Orphanet epidemiological data:

59
undetermined early-onset epileptic encephalopathy
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 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 retinitis pigmentosa 49 and episodic ataxia, type 1. An important gene associated with Undetermined Early-Onset Epileptic Encephalopathy is CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A), and among its related pathways/superpathways are Transmission across Chemical Synapses and Synaptic vesicle cycle. Related phenotypes are behavior/neurological and nervous system

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 retinitis pigmentosa 49 10.1 ATP6V1A EEF1A2
2 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 AP3B2 CACNA1A CYFIP2 EEF1A2 FGF12 GABRB2
2 nervous system MP:0003631 9.44 AP3B2 CACNA1A CYFIP2 EEF1A2 FGF12 GABRB2

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

ClinVar genetic disease variations for Undetermined Early-Onset Epileptic Encephalopathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SRGAP2 NC_000001.10: g.(?_206516175)_(206567055_?)dup duplication Likely pathogenic GRCh37 Chromosome 1, 206516175: 206567055
2 SRGAP2 NC_000001.10: g.(?_206579711)_(206634815_?)dup duplication Likely pathogenic GRCh37 Chromosome 1, 206579711: 206634815
3 RBFOX1 NC_000016.10: g.(?_6316970)_(6317082_?)del deletion Likely pathogenic GRCh37 Chromosome 16, 6366971: 6367083
4 RBFOX1 NC_000016.10: g.(?_6316970)_(6317082_?)del deletion Likely pathogenic GRCh38 Chromosome 16, 6316970: 6317082
5 RBFOX1 NC_000016.10: g.(?_6654578)_(6654675_?)del deletion Likely pathogenic GRCh38 Chromosome 16, 6654578: 6654675
6 RBFOX1 NC_000016.10: g.(?_6654578)_(6654675_?)del deletion Likely pathogenic GRCh37 Chromosome 16, 6704579: 6704676

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
12.29 CACNA1A GABRB2 GRIN2D HCN1 KCNA2 SLC1A2
2
Show member pathways
11.39 ATP6V1A CACNA1A CLTC
3 10.4 CACNA1A GABRB2 GRIN2D

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 dendrite GO:0030425 9.65 CACNA1A HCN1 KCNA2 NTRK2 TRAK1
2 axon GO:0030424 9.55 HCN1 KCNA2 NTRK2 SCN3A SLC1A2
3 myelin sheath GO:0043209 9.26 ATP6V1A CLTC EEF1A2 YWHAG
4 synapse GO:0045202 9.1 CYFIP2 EEF1A2 GABRB2 GRIN2D KCNA2 YWHAG
5 membrane GO:0016020 10.2 AP3B2 CACNA1A CLTC CNKSR2 CYFIP2 GABRB2

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.77 CACNA1A HCN1 KCNA2 SCN3A SLC1A2
2 negative regulation of neuron apoptotic process GO:0043524 9.63 CACNA1A GABRB2 NTRK2
3 ion transmembrane transport GO:0034220 9.62 ATP6V1A CACNA1A GABRB2 SCN3A
4 regulation of membrane potential GO:0042391 9.61 CACNA1A GABRB2 HCN1
5 chemical synaptic transmission GO:0007268 9.56 CACNA1A FGF12 GABRB2 SLC1A2
6 gamma-aminobutyric acid signaling pathway GO:0007214 9.48 CACNA1A GABRB2
7 regulation of ion transmembrane transport GO:0034765 9.46 CACNA1A HCN1 KCNA2 SCN3A
8 glutamate secretion GO:0014047 9.4 NTRK2 SLC1A2
9 ion transport GO:0006811 9.23 ATP6V1A CACNA1A GABRB2 GRIN2D HCN1 KCNA2
10 neuromuscular process GO:0050905 9.13 CACNA1A FGF12 UBA5

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.26 CACNA1A HCN1 KCNA2 SCN3A
2 voltage-gated sodium channel activity GO:0005248 9.16 HCN1 SCN3A
3 ion channel activity GO:0005216 9.02 CACNA1A GABRB2 GRIN2D HCN1 SCN3A
4 protein binding GO:0005515 10.16 CACNA1A CLTC CNKSR2 CYFIP2 EEF1A2 FGF12

Sources for Undetermined Early-Onset Epileptic Encephalopathy

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
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