Details of Disease | DrugMAP

General Information of Disease (ID: DISFZN2O)

Disease Name	Autosomal dominant epilepsy with auditory features
Synonyms	epilepsy, partial, with auditory features; epilepsy, lateral temporal lobe, autosomal dominant; epilepsy, familial temporal lobe, 1; autosomal dominant partial epilepsy with auditory features; epilepsy, familial temporal lobe, type 1; epilepsy, familial temporal lobe 1; familial temporal lobe epilepsy type 1; ETL1; familial temporal lobe epilepsy 1; autosomal dominant epilepsy with auditory features; autosomal dominant lateral temporal lobe epilepsy; partial epilepsy with auditory features; ADLTE; ADEAF; partial epilepsy with auditory aura; ADPEAF; Autosomal dominant epilepsy with auditory features
Definition	A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.\|Editor note: split out generic type
Disease Hierarchy	DISNOPXX: Temporal lobe epilepsy DISFZN2O: Autosomal dominant epilepsy with auditory features
Disease Identifiers	MONDO ID MONDO_0010898 MESH ID C537297 UMLS CUI C1838062 MedGen ID 325326 Orphanet ID 101046 SNOMED CT ID 784377008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DEPDC5	OTE70JLY	Supportive	Autosomal dominant	[1]
RELN	OTLKMW1O	Supportive	Autosomal dominant	[2]
ADAM22	OT452ZDC	Strong	Genetic Variation	[3]
ADGRV1	OTLVXHHP	Strong	Genetic Variation	[4]
CRISPLD2	OTVSFHTL	Strong	Genetic Variation	[4]
LGI4	OTZGS8BN	Strong	Genetic Variation	[5]
LLGL1	OTAIQSXZ	Strong	Genetic Variation	[4]
LGI1	OTPS77HO	Definitive	Autosomal dominant	[6]
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⏷ Show the Full List of 8 DOT(s)

References

1	Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet. 2013 May;45(5):546-51. doi: 10.1038/ng.2599. Epub 2013 Mar 31.
2	Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. Am J Hum Genet. 2015 Jun 4;96(6):992-1000. doi: 10.1016/j.ajhg.2015.04.020.
3	ADAM22 and ADAM23 modulate the targeting of the Kv1 channel-associated protein LGI1 to the axon initial segment.J Cell Sci. 2019 Jan 16;132(2):jcs219774. doi: 10.1242/jcs.219774.
4	Molecular basis of Mendelian idiopathic epilepsies.Ann Med. 2004;36(2):89-97. doi: 10.1080/07853890310019952.
5	LGI1 mutations in temporal lobe epilepsies.Neurology. 2004 Apr 13;62(7):1115-9. doi: 10.1212/01.wnl.0000118213.94650.81.
6	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.