MCID: UND011
MIFTS: 15

Undetermined Early-Onset Epileptic Encephalopathy malady

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Undetermined Early-Onset Epileptic Encephalopathy

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Aliases & Descriptions for Undetermined Early-Onset Epileptic Encephalopathy:

Name: Undetermined Early-Onset Epileptic Encephalopathy 52
 
Undetermined Eoee 52

Characteristics:

Orphanet epidemiological data:

52
undetermined early-onset epileptic encephalopathy:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet52 ORPHA442835

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 erb-duchenne and dejerine-klumpke palsies and postpartum psychosis. An important gene associated with Undetermined Early-Onset Epileptic Encephalopathy is SLC13A5 (Solute Carrier Family 13 Member 5), and among its related pathways is Potassium Channels. Related mouse phenotypes are behavior/neurological and nervous system.

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
1erb-duchenne and dejerine-klumpke palsies9.6DNM1, KCNB1, SCN8A
2postpartum psychosis5.7AARS, CNKSR2, DNM1, EEF1A2, HCN1, KCNA2

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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053866.6AARS, DNM1, EEF1A2, HCN1, KCNA2, KCNB1
2MP:00036316.6AARS, DNM1, EEF1A2, HCN1, KCNA2, SCN8A

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
9.0HCN1, 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:003280910.2KCNA2, KCNB1
2dendriteGO:00304259.1HCN1, KCNA2, KCNB1
3axonGO:00304249.0HCN1, KCNA2, KCNB1
4plasma membraneGO:00058866.7CNKSR2, DNM1, HCN1, KCNA2, KCNB1, NECAP1

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

idNameGO IDScoreTop Affiliating Genes
1regulation of postsynaptic membrane potentialGO:00600789.6HCN1, SCN8A
2neuronal action potentialGO:00192289.4KCNA2, SCN8A
3potassium ion transmembrane transportGO:00718058.9HCN1, KCNA2, KCNB1
4regulation of ion transmembrane transportGO:00347658.2HCN1, KCNA2, KCNB1, SCN8A

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

idNameGO IDScoreTop Affiliating Genes
1delayed rectifier potassium channel activityGO:000525110.0KCNA2, KCNB1
2potassium channel activityGO:00052679.5HCN1, KCNA2
3voltage-gated sodium channel activityGO:00052489.5HCN1, SCN8A
4voltage-gated potassium channel activityGO:00052499.3HCN1, KCNA2

Sources for Undetermined Early-Onset Epileptic Encephalopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet