Details of Disease | DrugMAP

General Information of Disease (ID: DISRI6CO)

Disease Name	Autosomal dominant nocturnal frontal lobe epilepsy 3
Synonyms	epilepsy, nocturnal frontal lobe, 3; nocturnal frontal lobe epilepsy 3; epilepsy, nocturnal frontal lobe, type 3; ENFL3; autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNB2; autosomal dominant nocturnal frontal lobe epilepsy type 3; CHRNB2 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 CHRNB2 gene.
Disease Hierarchy	DISWP477: Sleep-related hypermotor epilepsy DISE3C4O: Autosomal dominant nocturnal frontal lobe epilepsy DISRI6CO: Autosomal dominant nocturnal frontal lobe epilepsy 3
Disease Identifiers	MONDO ID MONDO_0011545 MESH ID C565334 UMLS CUI C1854335 OMIM ID 605375 MedGen ID 344263

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
CHRNB2	TT5KPZR	Disputed	Biomarker	[1]
CHRNB2	TT5KPZR	Strong	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
CHRNB2	OTNAT2M5	Strong	Autosomal dominant	[2]
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References

1	Altered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the 2 nicotinic receptor.Mol Psychiatry. 2011 Oct;16(10):1048-61. doi: 10.1038/mp.2010.78. Epub 2010 Jul 6.
2	The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet. 2000 Nov;26(3):275-6. doi: 10.1038/81566.