Epilessia frontale notturna familiare

Translated title of the contribution: Familial nocturnal frontal lobe epilepsy

P. Tinuper, A. Gambardella

Research output: Contribution to journalArticle

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.

Translated title of the contributionFamilial nocturnal frontal lobe epilepsy
Original languageItalian
Pages (from-to)43-47
Number of pages5
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number118
Publication statusPublished - Oct 2002

ASJC Scopus subject areas

  • Clinical Neurology

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