Details of Disease

General Information of Disease (ID: DISE3C4O)

• Disease Name: Autosomal dominant nocturnal frontal lobe epilepsy
• Synonyms: ADNFLE; ENFL
• Definition: Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.
• Disease Hierarchy:
  DISHN8AO: Frontal lobe epilepsy
  DISHLPYW: Familial partial epilepsy
  DISE3C4O: Autosomal dominant nocturnal frontal lobe epilepsy
• Disease Identifiers:
  MONDO ID: MONDO_0020300
  MESH ID: C579932
  UMLS CUI: C3696898
  MedGen ID: 777188
  Orphanet ID: 98784
  SNOMED CT ID: 698021005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 11 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CHRNA2	TTF4E0J	Limited	Genetic Variation	[1]
CHRNA2	TTF4E0J	Supportive	Autosomal dominant	[2]
CHRNA4	TT4H1MQ	Supportive	Autosomal dominant	[3]
CHRNB2	TT5KPZR	Supportive	Autosomal dominant	[4]
CRH	TTA7YIZ	Supportive	Autosomal dominant	[5]
CHRNA4	TT4H1MQ	Strong	Altered Expression	[6]
CHRNB2	TT5KPZR	Strong	Genetic Variation	[7]
CRH	TTA7YIZ	Strong	Genetic Variation	[8]
KCNQ2	TTPXI3S	Strong	Biomarker	[9]
KCNQ3	TTIVDM3	Strong	Biomarker	[9]
KCNT1	TTGJFK1	Definitive	Genetic Variation	[10]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
KCNT1	DTTHWCM	Supportive	Autosomal dominant	[11]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IGBP1	OTTHH4YE	Limited	Genetic Variation	[12]
CABP4	OTL0TRR5	Supportive	Autosomal dominant	[13]
CHRNA2	OTVQQSMK	Supportive	Autosomal dominant	[2]
CHRNA4	OT1H0ZXC	Supportive	Autosomal dominant	[3]
CHRNB2	OTNAT2M5	Supportive	Autosomal dominant	[4]
CRH	OT2MOC4T	Supportive	Autosomal dominant	[5]
DEPDC5	OTE70JLY	Supportive	Autosomal dominant	[14]
KCNT1	OTIFGW9Z	Supportive	Autosomal dominant	[11]
CHRNA3	OTCZQY1U	Strong	Biomarker	[15]

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.
• [3] A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. 1995 Oct;11(2):201-3. doi: 10.1038/ng1095-201.
• [4] 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.
• [5] Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene. Ann Neurol. 2005 Dec;58(6):899-904. doi: 10.1002/ana.20660.
• [6] Pathologic role of neuronal nicotinic acetylcholine receptors in epileptic disorders: implication for pharmacological interventions.Rev Neurosci. 2015;26(2):199-223. doi: 10.1515/revneuro-2014-0044.
• [7] Hippocampal sclerosis worsens autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) phenotype related to CHRNB2 mutation.Eur J Neurol. 2013 Mar;20(3):591-593. doi: 10.1111/j.1468-1331.2012.03839.x. Epub 2012 Aug 17.
• [8] Functional characterization of a CRH missense mutation identified in an ADNFLE family.PLoS One. 2013 Apr 11;8(4):e61306. doi: 10.1371/journal.pone.0061306. Print 2013.
• [9] Susceptibility genes in human epilepsy.Semin Neurol. 1999;19(4):397-405. doi: 10.1055/s-2008-1040854.
• [10] KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.J Med Genet. 2016 Apr;53(4):217-25. doi: 10.1136/jmedgenet-2015-103508. Epub 2016 Jan 6.
• [11] 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.
• [12] Nicotine normalizes intracellular subunit stoichiometry of nicotinic receptors carrying mutations linked to autosomal dominant nocturnal frontal lobe epilepsy.Mol Pharmacol. 2009 May;75(5):1137-48. doi: 10.1124/mol.108.054494. Epub 2009 Feb 23.
• [13] Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca(2+)-binding protein 4 (CABP4) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy. Oncotarget. 2017 Sep 5;8(45):78940-78947. doi: 10.18632/oncotarget.20694. eCollection 2017 Oct 3.
• [14] 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.
• [15] Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLE.Neuroreport. 2000 Jul 14;11(10):2097-101. doi: 10.1097/00001756-200007140-00008.