KEGG   DISEASE: H00807Help
H00807                      Disease                                

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE);
Nocturnal frontal lobe epilepsy (NFLE)
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.
Nervous system disease
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00807  Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
BRITE hierarchy
Neuroactive ligand-receptor interaction
Cholinergic synapse
CHRNA4 [HSA:1137] [KO:K04806]
CHRNB2 [HSA:1141] [KO:K04813]
CHRNA2 [HSA:1135] [KO:K04804]
long term video EEG monitoring, interictal PET
Other DBs
PMID:15843070 (description, gene, marker)
di Corcia G, Blasetti A, De Simone M, Verrotti A, Chiarelli F
Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)".
Eur J Paediatr Neurol 9:59-66 (2005)
PMID:18754913 (description, gene)
Weber YG, Lerche H
Genetic mechanisms in idiopathic epilepsies.
Dev Med Child Neurol 50:648-54 (2008)

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