Abstract
Nocturnal frontal lobe epilepsy is a spectrum of distinct phenomena, differing in intensity but representing a continuum of the same epileptic condition. According to the different intensity, duration, and clinical features we described three different types of ictal manifestations: nocturnal (typical) frontal lobe seizures, epileptic arousals and epileptic nocturnal wanderings. In the last few years, it has been shown that nocturnal frontal epilepsy may be inherited in a simple (autosomal dominant) fashion. Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is caused by mutations in the alfa-4 subunit of the neuronal nicotinic acetylcholine receptor gene, mapping on chromosome 20q13.2. A second ADNFLE locus was mapped on chromosome 15q24. More recently, we identified a third ADNFLE locus on chromosome 1 in a large Italian family, in which we also demonstrated a missense mutation of the nicotinic acetylcholine receptor beta2 subunit. This mutation dramatically alters the electrophysiologic properties of the receptor complex by retarding its desensitization. Overall, these data further support the pathogenic role of the cholinergic system in nocturnal frontal lobe epilepsy.
| Original language | Italian |
|---|---|
| Pages (from-to) | 43-47 |
| Number of pages | 5 |
| Journal | Bollettino - Lega Italiana contro l'Epilessia |
| Issue number | 118 |
| Publication status | Published - Oct 2002 |
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ASJC Scopus subject areas
- Clinical Neurology
Cite this
Epilessia frontale notturna familiare. / Tinuper, P.; Gambardella, A.
In: Bollettino - Lega Italiana contro l'Epilessia, No. 118, 10.2002, p. 43-47.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Epilessia frontale notturna familiare
AU - Tinuper, P.
AU - Gambardella, A.
PY - 2002/10
Y1 - 2002/10
N2 - Nocturnal frontal lobe epilepsy is a spectrum of distinct phenomena, differing in intensity but representing a continuum of the same epileptic condition. According to the different intensity, duration, and clinical features we described three different types of ictal manifestations: nocturnal (typical) frontal lobe seizures, epileptic arousals and epileptic nocturnal wanderings. In the last few years, it has been shown that nocturnal frontal epilepsy may be inherited in a simple (autosomal dominant) fashion. Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is caused by mutations in the alfa-4 subunit of the neuronal nicotinic acetylcholine receptor gene, mapping on chromosome 20q13.2. A second ADNFLE locus was mapped on chromosome 15q24. More recently, we identified a third ADNFLE locus on chromosome 1 in a large Italian family, in which we also demonstrated a missense mutation of the nicotinic acetylcholine receptor beta2 subunit. This mutation dramatically alters the electrophysiologic properties of the receptor complex by retarding its desensitization. Overall, these data further support the pathogenic role of the cholinergic system in nocturnal frontal lobe epilepsy.
AB - Nocturnal frontal lobe epilepsy is a spectrum of distinct phenomena, differing in intensity but representing a continuum of the same epileptic condition. According to the different intensity, duration, and clinical features we described three different types of ictal manifestations: nocturnal (typical) frontal lobe seizures, epileptic arousals and epileptic nocturnal wanderings. In the last few years, it has been shown that nocturnal frontal epilepsy may be inherited in a simple (autosomal dominant) fashion. Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is caused by mutations in the alfa-4 subunit of the neuronal nicotinic acetylcholine receptor gene, mapping on chromosome 20q13.2. A second ADNFLE locus was mapped on chromosome 15q24. More recently, we identified a third ADNFLE locus on chromosome 1 in a large Italian family, in which we also demonstrated a missense mutation of the nicotinic acetylcholine receptor beta2 subunit. This mutation dramatically alters the electrophysiologic properties of the receptor complex by retarding its desensitization. Overall, these data further support the pathogenic role of the cholinergic system in nocturnal frontal lobe epilepsy.
KW - ENFL1, ENFL2, ENFL3
KW - Frontal Lobe Seizures, Nocturnal Seizures, Epilepsy and Sleep, Genetics
UR - http://www.scopus.com/inward/record.url?scp=0036820863&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0036820863&partnerID=8YFLogxK
M3 - Articolo
AN - SCOPUS:0036820863
SP - 43
EP - 47
JO - Bollettino - Lega Italiana contro l'Epilessia
JF - Bollettino - Lega Italiana contro l'Epilessia
SN - 0394-560X
IS - 118
ER -