Details of Disease

General Information of Disease (ID: DIS8N0WD)

• Disease Name: Autosomal dominant nocturnal frontal lobe epilepsy 4
• Synonyms: seizures, benign familial infantile, 6; convulsions, benign familial infantile, 6; epilepsy, nocturnal frontal lobe, 4; epilepsy, familial, with nocturnal wandering and Ictal fear; nocturnal frontal lobe epilepsy 4; autosomal dominant nocturnal frontal lobe epilepsy type 4; ENFL4; CHRNA2 autosomal dominant nocturnal frontal lobe epilepsy; autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA2; epilepsy, nocturnal frontal lobe, type 4
• Definition: Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene.
• Disease Hierarchy:
  DISWP477: Sleep-related hypermotor epilepsy
  DISE3C4O: Autosomal dominant nocturnal frontal lobe epilepsy
  DIS8N0WD: Autosomal dominant nocturnal frontal lobe epilepsy 4
• Disease Identifiers:
  MONDO ID: MONDO_0012474
  MESH ID: C563679
  UMLS CUI: C1835905
  OMIM ID: 610353
  MedGen ID: 332082

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CHRNA2	TTF4E0J	moderate	Genetic Variation	[1]
CHRNA2	TTF4E0J	Strong	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHRNA2	OTVQQSMK	Strong	Autosomal dominant	[2]

References

• [1] Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy.Epilepsia. 2015 May;56(5):e53-7. doi: 10.1111/epi.12967. Epub 2015 Apr 3.
• [2] Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Am J Hum Genet. 2006 Aug;79(2):342-50. doi: 10.1086/506459. Epub 2006 Jun 26.