Details of Disease | DrugMAP

General Information of Disease (ID: DIS3ZC4T)

Disease Name	Autosomal dominant nocturnal frontal lobe epilepsy 5
Synonyms	epilepsy, nocturnal frontal lobe, 5; ENFL5; epilepsy nocturnal frontal lobe, 5; epilepsy, nocturnal frontal lobe, type 5; nocturnal frontal lobe epilepsy 5; autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in KCNT1; autosomal dominant nocturnal frontal lobe epilepsy type 5; KCNT1 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 KCNT1 gene.
Disease Hierarchy	DISWP477: Sleep-related hypermotor epilepsy DISE3C4O: Autosomal dominant nocturnal frontal lobe epilepsy DIS3ZC4T: Autosomal dominant nocturnal frontal lobe epilepsy 5
Disease Identifiers	MONDO ID MONDO_0014002 UMLS CUI C3554306 OMIM ID 615005 MedGen ID 767220

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNT1	TTGJFK1	Strong	CausalMutation	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
KCNT1	DTTHWCM	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
KCNT1	OTIFGW9Z	Strong	Autosomal dominant	[2]
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References

1	A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.PLoS Genet. 2017 Nov 29;13(11):e1007104. doi: 10.1371/journal.pgen.1007104. eCollection 2017 Nov.
2	Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. 2012 Nov;44(11):1188-90. doi: 10.1038/ng.2440. Epub 2012 Oct 21.