| H00807 | |
| H番号 | H00807 |
| 名称 | 夜間前頭葉てんかん |
| 概要 | 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. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (ENFL1) CHRNA4 [HSA:1137] [KO:K04806] (ENFL3) CHRNB2 [HSA:1141] [KO:K04813] (ENFL4) CHRNA2 [HSA:1135] [KO:K04804] (ENFL5) KCNT1 [HSA:57582] [KO:K04946] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8A61.4Y MeSH: C579932 OMIM: 600513 605375 610353 615005 |
| 文献 | PMID:15843070 著者 di Corcia G, Blasetti A, De Simone M, Verrotti A, Chiarelli F タイトル Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)". 雑誌 Eur J Paediatr Neurol 9:59-66 (2005) DOI:10.1016/j.ejpn.2004.12.006 PMID:18754913 著者 Weber YG, Lerche H タイトル Genetic mechanisms in idiopathic epilepsies. 雑誌 Dev Med Child Neurol 50:648-54 (2008) DOI:10.1111/j.1469-8749.2008.03058.x PMID:7550350 (CHRNA4) 著者 Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF タイトル A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. 雑誌 Nat Genet 11:201-3 (1995) DOI:10.1038/ng1095-201 PMID:11062464 (CHRNB2) 著者 De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A, Ballabio A, Wanke E, Casari G タイトル The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. 雑誌 Nat Genet 26:275-6 (2000) DOI:10.1038/81566 PMID:16826524 (CHRNA2) 著者 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 タイトル Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. 雑誌 Am J Hum Genet 79:342-50 (2006) DOI:10.1086/506459 PMID:23086396 (KCNT1) 著者 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 タイトル Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 雑誌 Nat Genet 44:1188-90 (2012) DOI:10.1038/ng.2440 |