Details of Disease

General Information of Disease (ID: DIS8GCK6)

Disease Name Familial temporal lobe epilepsy 5
Synonyms epilepsy, familial temporal lobe, 5; epilepsy, familial temporal lobe, type 5; familial temporal lobe epilepsy type 5; ETL5
Definition A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13.
Disease Hierarchy
DISNOPXX: Temporal lobe epilepsy
DIS8GCK6: Familial temporal lobe epilepsy 5
Disease Identifiers
MONDO ID
MONDO_0013741
UMLS CUI
C3280730
OMIM ID
614417
MedGen ID
482360

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CPA6 OT43RD23 Limited Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.