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:
30ICD10 via Orphanet, 53Orphanet
See all MalaCards sources

Aliases & Descriptions for Undetermined Early-Onset Epileptic Encephalopathy:

Name: Undetermined Early-Onset Epileptic Encephalopathy 53
 
Undetermined Eoee 53

Characteristics:

Orphanet epidemiological data:

53
undetermined early-onset epileptic encephalopathy:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet53 ORPHA442835
ICD10 via Orphanet30 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 sarcocystosis and atrial fibrillation, familial, 7. An important gene associated with Undetermined Early-Onset Epileptic Encephalopathy is NECAP1 (NECAP Endocytosis Associated 1), and among its related pathways are Potassium Channels and Nicotine addiction. 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
1sarcocystosis10.1CACNA1A, KCNA2
2atrial fibrillation, familial, 710.0CACNA1A, KCNA2
3erb-duchenne and dejerine-klumpke palsies9.9DNM1, KCNB1, SCN8A
4schistosoma mansoni infection, susceptibility/9.9CACNA1A, WWOX
5postpartum psychosis7.5AARS, CNKSR2, DNM1, EEF1A2, HCN1, KCNA2

Graphical network of diseases related to Undetermined Early-Onset Epileptic Encephalopathy:



Diseases related to undetermined early-onset epileptic encephalopathy

Symptoms for Undetermined Early-Onset Epileptic Encephalopathy

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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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Animal Models for Undetermined Early-Onset Epileptic Encephalopathy or affiliated genes

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

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.7AARS, CACNA1A, EEF1A2, GRIN2D, HCN1, KCNA2
2MP:00053866.5AARS, CACNA1A, DNM1, EEF1A2, FGF12, GRIN2D
3MP:00036315.9AARS, CACNA1A, DNM1, EEF1A2, FGF12, GRIN2D

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
29.4CACNA1A, GRIN2D
38.9CACNA1A, 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:003280910.5KCNA2, KCNB1
2postsynaptic membraneGO:00452119.4CNKSR2, GRIN2D, KCNB1
3dendriteGO:00304259.1CACNA1A, HCN1, KCNA2, KCNB1
4plasma membraneGO:00058866.7CACNA1A, CNKSR2, DNM1, GRIN2D, HCN1, KCNA2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1regulation of postsynaptic membrane potentialGO:006007810.3HCN1, SCN8A
2membrane depolarization during action potentialGO:008601010.2CACNA1A, SCN8A
3cerebellar Purkinje cell layer developmentGO:002168010.0AARS, CACNA1A
4neuronal action potentialGO:00192289.9KCNA2, SCN8A
5potassium ion transmembrane transportGO:00718059.7HCN1, KCNA2, KCNB1
6neuromuscular processGO:00509059.1AARS, CACNA1A, FGF12
7regulation of ion transmembrane transportGO:00347659.0CACNA1A, HCN1, KCNA2, KCNB1, SCN8A
8adult locomotory behaviorGO:00083448.3DNM1, FGF12, GRIN2D

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

idNameGO IDScoreTop Affiliating Genes
1delayed rectifier potassium channel activityGO:000525110.3KCNA2, KCNB1
2voltage-gated sodium channel activityGO:00052489.9HCN1, SCN8A
3potassium channel activityGO:00052679.5HCN1, KCNA2

Sources for Undetermined Early-Onset Epileptic Encephalopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet