MCID: UND011
MIFTS: 19

Undetermined Early-Onset Epileptic Encephalopathy malady

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Undetermined Early-Onset Epileptic Encephalopathy

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Sources:
31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for Undetermined Early-Onset Epileptic Encephalopathy:

Name: Undetermined Early-Onset Epileptic Encephalopathy 54
 
Undetermined Eoee 54

Characteristics:

Orphanet epidemiological data:

54
undetermined early-onset epileptic encephalopathy:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet54 ORPHA442835
ICD10 via Orphanet31 G40.4

Summaries for Undetermined Early-Onset Epileptic Encephalopathy

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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 are Potassium Channels and Internalization of ErbB1. Related mouse phenotypes are growth/size/body region and behavior/neurological.

Related Diseases for Undetermined Early-Onset Epileptic Encephalopathy

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

idRelated DiseaseScoreTop Affiliating Genes
1acquired hemangioma10.0CNKSR2, WWOX
2retinal cone dystrophy 39.9CACNA1A, KCNA2
320q11.2 microdeletion syndrome7.9AARS, CACNA1A, CNKSR2, DNM1, EEF1A2, FGF12

Symptoms & Phenotypes for Undetermined Early-Onset Epileptic Encephalopathy

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MGI Mouse Phenotypes related to Undetermined Early-Onset Epileptic Encephalopathy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053786.9AARS, CACNA1A, EEF1A2, GRIN2D, HCN1, KCNA2
2MP:00053866.4AARS, CACNA1A, DNM1, EEF1A2, FGF12, GRIN2D
3MP:00036315.7AARS, CACNA1A, DNM1, EEF1A2, FGF12, GRIN2D

Drugs & Therapeutics for Undetermined Early-Onset Epileptic Encephalopathy

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Interventional clinical trials:

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

Genetic Tests for Undetermined Early-Onset Epileptic Encephalopathy

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Anatomical Context for Undetermined Early-Onset Epileptic Encephalopathy

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Publications for Undetermined Early-Onset Epileptic Encephalopathy

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Variations for Undetermined Early-Onset Epileptic Encephalopathy

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Expression for genes affiliated with Undetermined Early-Onset Epileptic Encephalopathy

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

Pathways for genes affiliated with Undetermined Early-Onset Epileptic Encephalopathy

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6HCN1, KCNA2, KCNB1
29.6DNM1, SYNJ1
38.8CACNA1A, GRIN2D, KCNA2, KCNB1
4
Show member pathways
8.5CACNA1A, GRIN2D, HCN1, KCNA2, KCNB1

GO Terms for genes affiliated with Undetermined Early-Onset Epileptic Encephalopathy

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

idNameGO IDScoreTop Affiliating Genes
1neuronal cell body membraneGO:003280910.6KCNA2, KCNB1
2membrane coatGO:003011710.3DNM1, SYNJ1
3dendriteGO:00304259.7CACNA1A, HCN1, KCNA2, KCNB1
4neuron projectionGO:00430059.7CNKSR2, KCNA2, KCNB1, SYNJ1
5synapseGO:00452029.1DNM1, GRIN2D, KCNA2, KCNB1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1neuronal action potentialGO:001922810.8KCNA2, SCN8A
2membrane depolarization during action potentialGO:008601010.4CACNA1A, SCN8A
3sodium ion transportGO:000681410.4HCN1, SCN8A, SLC13A5
4potassium ion transmembrane transportGO:007180510.4HCN1, KCNA2, KCNB1
5potassium ion transportGO:000681310.4HCN1, KCNA2, KCNB1
6cerebellar Purkinje cell layer developmentGO:002168010.4AARS, CACNA1A
7endocytosisGO:000689710.1DNM1, NECAP1, SYNJ1
8adult locomotory behaviorGO:000834410.0DNM1, FGF12, GRIN2D
9neuromuscular processGO:005090510.0AARS, CACNA1A, FGF12
10transmembrane transportGO:00550859.2CACNA1A, HCN1, KCNA2, KCNB1, SCN8A, SLC13A5
11regulation of ion transmembrane transportGO:00347659.0CACNA1A, GRIN2D, HCN1, KCNA2, KCNB1, SCN8A
12ion transportGO:00068118.7CACNA1A, GRIN2D, HCN1, KCNA2, KCNB1, SCN8A
13transportGO:00068107.7CACNA1A, GRIN2D, HCN1, KCNA2, KCNB1, NECAP1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1delayed rectifier potassium channel activityGO:000525110.6KCNA2, KCNB1
2sodium channel activityGO:000527210.5HCN1, SCN8A
3potassium channel activityGO:000526710.2HCN1, KCNA2, KCNB1
4voltage-gated potassium channel activityGO:000524910.0HCN1, KCNA2, KCNB1
5voltage-gated sodium channel activityGO:00052489.9HCN1, SCN8A
6voltage-gated ion channel activityGO:00052449.3CACNA1A, HCN1, KCNA2, KCNB1, SCN8A
7ion channel activityGO:00052169.1CACNA1A, GRIN2D, HCN1, KCNB1, SCN8A

Sources for Undetermined Early-Onset Epileptic Encephalopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet