Nocturnal frontal lobe epilepsy

Definition:

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.

References:

[1]. G di Corcia, et al. Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)". Eur J Paediatr Neurol. 2005;9(2):59-66. [Content Brief]

[2]. M De Fusco, et al. The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet. 2000 Nov;26(3):275-6. [Content Brief]

[3]. O K Steinlein, et al. 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. [Content Brief]

[4]. Paolo Aridon, et al. 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. [Content Brief]

[5]. Sarah E Heron, et al. 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. [Content Brief]

[6]. Yvonne G Weber, et al. Genetic mechanisms in idiopathic epilepsies. Dev Med Child Neurol. 2008 Sep;50(9):648-54. [Content Brief]

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