KEGG   DISEASE: H00807Help
Entry
H00807                      Disease                                

Name
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE);
Nocturnal frontal lobe epilepsy (NFLE)
Description
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by nocturnal, frequent, brief and stereotypic seizures that include explosive onset, screaming, agitation, stiffening, kicking or bicycling of the legs, and incontinence. 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 hierarchy
Pathway
Neuroactive ligand-receptor interaction
Cholinergic synapse
Gene
CHRNA4 [HSA:1137] [KO:K04806]
CHRNB2 [HSA:1141] [KO:K04813]
CHRNA2 [HSA:1135] [KO:K04804]
Marker
long term video EEG monitoring, interictal PET
Other DBs
Reference
PMID:15843070 (description, gene, marker)
  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)
Reference
PMID:18754913 (description, gene)
  Authors
Weber YG, Lerche H
  Title
Genetic mechanisms in idiopathic epilepsies.
  Journal
Dev Med Child Neurol 50:648-54 (2008)

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