Details of Disease | DrugMAP

General Information of Disease (ID: DISNEMUO)

Disease Name	Autosomal dominant nocturnal frontal lobe epilepsy 1
Synonyms	epilepsy, nocturnal frontal lobe, 1; ENFL1; nocturnal frontal lobe epilepsy 1; autosomal dominant nocturnal frontal lobe epilepsy type 1; autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA4; epilepsy, nocturnal frontal lobe, type 1; CHRNA4 autosomal dominant nocturnal frontal lobe epilepsy
Definition	Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene.
Disease Hierarchy	DISWP477: Sleep-related hypermotor epilepsy DISE3C4O: Autosomal dominant nocturnal frontal lobe epilepsy DISNEMUO: Autosomal dominant nocturnal frontal lobe epilepsy 1
Disease Identifiers	MONDO ID MONDO_0010899 MESH ID C563930 UMLS CUI C1838049 OMIM ID 600513 MedGen ID 324932

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CHRNA4	TT4H1MQ	moderate	Biomarker	[1]
CHRNA4	TT4H1MQ	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHRNA4	OT1H0ZXC	Definitive	Autosomal dominant	[2]
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References

1	A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.Arch Neurol. 2003 Nov;60(11):1625-32. doi: 10.1001/archneur.60.11.1625.
2	Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. Nat Genet. 1995 May;10(1):117-8. doi: 10.1038/ng0595-117.