| H00807 | |
| H number | H00807 |
| Name | Nocturnal frontal lobe epilepsy |
| Description | Nocturnal frontal lobe epilepsy (ENFL) is characterized by nocturnal, frequent, brief and stereotypic seizures. Ictal video electroencephalographic (EEG) studies have revealed partial seizures originating from the frontal lobe but also in parts of the insula, suggesting a defect of a broader network. Mutations in CHRNA4, CHRNB2, and CHRNA2, which encodes the alpha4-, beta2-, and alpha2-subunit of neuronal nicotinic acetylcholine receptor, have been reported. These mutations are concentrated in the pore-forming M2 transmembrane segments. |
| Category | Nervous system disease |
| Network | - |
| Gene | (ENFL1) CHRNA4 [HSA:1137] [KO:K04806] (ENFL3) CHRNB2 [HSA:1141] [KO:K04813] (ENFL4) CHRNA2 [HSA:1135] [KO:K04804] (ENFL5) KCNT1 [HSA:57582] [KO:K04946] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8A61.4Y MeSH: C579932 OMIM: 600513 605375 610353 615005 |
| Reference | PMID:15843070 AUTHORS di Corcia G, Blasetti A, De Simone M, Verrotti A, Chiarelli F TITLE Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)". JOURNAL Eur J Paediatr Neurol 9:59-66 (2005) DOI:10.1016/j.ejpn.2004.12.006 PMID:18754913 AUTHORS Weber YG, Lerche H TITLE Genetic mechanisms in idiopathic epilepsies. JOURNAL Dev Med Child Neurol 50:648-54 (2008) DOI:10.1111/j.1469-8749.2008.03058.x PMID:7550350 (CHRNA4) AUTHORS Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF TITLE A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. JOURNAL Nat Genet 11:201-3 (1995) DOI:10.1038/ng1095-201 PMID:11062464 (CHRNB2) AUTHORS De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A, Ballabio A, Wanke E, Casari G TITLE The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. JOURNAL Nat Genet 26:275-6 (2000) DOI:10.1038/81566 PMID:16826524 (CHRNA2) AUTHORS Aridon P, Marini C, Di Resta C, Brilli E, De Fusco M, Politi F, Parrini E, Manfredi I, Pisano T, Pruna D, Curia G, Cianchetti C, Pasqualetti M, Becchetti A, Guerrini R, Casari G TITLE Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. JOURNAL Am J Hum Genet 79:342-50 (2006) DOI:10.1086/506459 PMID:23086396 (KCNT1) AUTHORS Heron SE, Smith KR, Bahlo M, Nobili L, Kahana E, Licchetta L, Oliver KL, Mazarib A, Afawi Z, Korczyn A, Plazzi G, Petrou S, Berkovic SF, Scheffer IE, Dibbens LM TITLE Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. JOURNAL Nat Genet 44:1188-90 (2012) DOI:10.1038/ng.2440 |