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
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Epilepsy or seizures
8A61 Genetic or presumed genetic syndromes primarily expressed as epilepsy
H00807 Nocturnal frontal lobe epilepsy
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06544 Neuroactive ligand signaling
H00807 Nocturnal frontal lobe epilepsy
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.
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.
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.
