title: Nocturnal frontal lobe epilepsy and the acetylcholine receptor.
abstract: BACKGROUND
  Nocturnal frontal lobe epilepsy (NFLE) is an idiopathic partial epilepsy characterized by a wide spectrum of stereotyped motor manifestations, mostly occurring during non rapid eye movements sleep. NFLE is underdiagnosed since semiological similarities make it difficult to distinguish NFLE from parasomnias. In 1994, authors reported families with NFLE inherited as an autosomal dominant trait and they introduced the term of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). A family history of possible NFLE is found in about 25% of cases. The genetic bases of the disease have been detected in a minority of cases. Mutations causing a gain of function of the neuronal nicotinic acetylcholine receptors were reported in 3 different subunits.
  
  
  RESULTS
  This review discusses the clinical aspects of NFLE and the diagnostic procedures. Furthermore, the genetic aspects are outlined. The main differentiating features characterizing NFLE are: (a) several attacks per night at any time during the night; (b) brief duration of the attacks; (c) stereotyped motor pattern. Nocturnal video-polysomnography is crucial for the diagnosis. Neurological examination in NFLE/ADNFLE is normal. About 30% of NFLE cases are resistant to antiepileptic drugs. Concerning the genetics, putative susceptibility nucleotide variations affecting the promoter of the CRH gene and altering the corticotrophin-releasing hormone levels have been reported in some NFLE patients.
  
  
  CONCLUSIONS
  Distinguishing NFLE seizures from paroxysmal nonepileptic sleep disorders is often difficult and sometimes impossible on clinical grounds alone. Nocturnal video-polysomnography is mandatory. Further genetic studies could help the diagnosis and treatment in NFLE patients.
authors.affiliation: Department of Neuroscience, Sleep Disorders Center, Università Vita-Salute San Raffaele, Milan, Italy. ferinistrambi.luigi@hsr.it
authors.forename: Luigi
authors.initials: L
authors.lastname: Ferini-Strambi
authors.forename: Veronica
authors.initials: V
authors.lastname: Sansoni
authors.forename: Romina
authors.initials: R
authors.lastname: Combi
mesh_terms: D017034:Epilepsy, Frontal Lobe / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D009154:Mutation; D009460:Neurologic Examination; D011950:Receptors, Cholinergic / Q000378:metabolism*; D012893:Sleep Wake Disorders / Q000150:complications / Q000503:physiopathology; D014743:Videotape Recording / Q000379:methods
chemical_list: D011950:Receptors, Cholinergic