MCID: EPL133
MIFTS: 12

Epilepsy, Juvenile Absence 1 malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Epilepsy, Juvenile Absence 1

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Aliases & Descriptions for Epilepsy, Juvenile Absence 1:

Name: Epilepsy, Juvenile Absence 1 46
 
Epilepsy, Juvenile Absence, Susceptibility to, 1 9 20


Classifications:



External Ids:

OMIM46 607631

Summaries for Epilepsy, Juvenile Absence 1

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MalaCards based summary: Epilepsy, Juvenile Absence 1, is also known as epilepsy, juvenile absence, susceptibility to, 1, and has symptoms including autosomal dominant inheritance, absence seizures and generalized myoclonic seizures. An important gene associated with Epilepsy, Juvenile Absence 1 is EFHC1 (EF-hand domain (C-terminal) containing 1).

Description from OMIM:46 607631

Related Diseases for Epilepsy, Juvenile Absence 1

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Diseases in the Juvenile Absence Epilepsy family:

epilepsy, juvenile absence 1 Early Onset Absence Epilepsy

Symptoms for Epilepsy, Juvenile Absence 1

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Symptoms by clinical synopsis from OMIM:

607631

Clinical features from OMIM:

607631

HPO human phenotypes related to Epilepsy, Juvenile Absence 1:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 absence seizures HP:0002121
3 generalized myoclonic seizures HP:0002123
4 generalized tonic-clonic seizures on awakening HP:0007193
5 eeg with spike-wave complexes (>3.5 hz) HP:0010849

Drugs & Therapeutics for Epilepsy, Juvenile Absence 1

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Drug clinical trials:

Search ClinicalTrials for Epilepsy, Juvenile Absence 1

Search NIH Clinical Center for Epilepsy, Juvenile Absence 1

Genetic Tests for Epilepsy, Juvenile Absence 1

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Genetic tests related to Epilepsy, Juvenile Absence 1:

id Genetic test Affiliating Genes
1 Epilepsy, Juvenile Absence, Susceptibility to, 120 EFHC1

Anatomical Context for Epilepsy, Juvenile Absence 1

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Animal Models for Epilepsy, Juvenile Absence 1 or affiliated genes

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Publications for Epilepsy, Juvenile Absence 1

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Variations for Epilepsy, Juvenile Absence 1

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Clinvar genetic disease variations for Epilepsy, Juvenile Absence 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1EFHC1NM_018100.3(EFHC1): c.520A> G (p.Ile174Val)single nucleotide variantrisk factorrs137852779GRCh37Chr 6, 52303336: 52303336
2EFHC1NM_018100.3(EFHC1): c.776G> A (p.Cys259Tyr)single nucleotide variantrisk factorrs137852780GRCh37Chr 6, 52318945: 52318945

Expression for genes affiliated with Epilepsy, Juvenile Absence 1

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Search GEO for disease gene expression data for Epilepsy, Juvenile Absence 1.

Pathways for genes affiliated with Epilepsy, Juvenile Absence 1

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Compounds for genes affiliated with Epilepsy, Juvenile Absence 1

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GO Terms for genes affiliated with Epilepsy, Juvenile Absence 1

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Sources for Epilepsy, Juvenile Absence 1

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet