Details of Disease

General Information of Disease (ID: DISTRYUX)

Disease Name Epilepsy, familial temporal lobe, 1
Synonyms epilepsy, partial, with auditory features; epilepsy, familial temporal lobe, type 1; epilepsy, lateral temporal lobe, autosomal dominant; ETL1
Definition
An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations.
Disease Hierarchy
DISFZN2O: Autosomal dominant epilepsy with auditory features
DISTRYUX: Epilepsy, familial temporal lobe, 1
Disease Identifiers
MONDO ID
MONDO_0700090
UMLS CUI
C4551957
OMIM ID
600512
MedGen ID
1643229

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ADAM22 OT452ZDC Strong Biomarker [1]
ADGRV1 OTLVXHHP Strong Genetic Variation [2]
CRISPLD2 OTVSFHTL Strong Genetic Variation [2]
LGI1 OTPS77HO Strong Autosomal dominant [3]
LLGL1 OTAIQSXZ Strong Genetic Variation [2]
RELN OTLKMW1O Strong Genetic Variation [4]
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⏷ Show the Full List of 6 DOT(s)

References

1 The LGI1-ADAM22 protein complex in synaptic transmission and synaptic disorders.Neurosci Res. 2017 Mar;116:39-45. doi: 10.1016/j.neures.2016.09.011. Epub 2016 Oct 4.
2 Molecular basis of Mendelian idiopathic epilepsies.Ann Med. 2004;36(2):89-97. doi: 10.1080/07853890310019952.
3 Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene. Epilepsia. 2004 Mar;45(3):218-22. doi: 10.1111/j.0013-9580.2004.47203.x.
4 The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations.Epilepsy Behav. 2017 Mar;68:103-107. doi: 10.1016/j.yebeh.2016.12.003. Epub 2017 Jan 28.