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Chapter 8 - Autosomal dominant nocturnal frontal lobe epilepsy

from Section 2 - Idiopathic epilepsy

Published online by Cambridge University Press:  05 March 2012

Simon D. Shorvon
Affiliation:
National Hospital for Neurology and Neurosurgery, London
Frederick Andermann
Affiliation:
Montreal Neurological Hospital and Institute
Renzo Guerrini
Affiliation:
Child Neurology Unit, Meyer Pediatric Hospital, Florence
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Summary

In vitro analyses of the functional properties of neuronal nicotinic acetylcholine receptor (nAChR) disclosed gain of function (i.e. an increase in acetylcholine sensitivity) of mutant receptors associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) that may underlie the neuronal network dysfunction responsible for the epileptic seizures. Positron emission tomography (PET) studies in ADNFLE patients suggest a hyperactivation of the cholinergic pathway ascending from the brainstem. An accurate description of the phenotypic aspects of the patients, including precise clinical and electroencephalogram (EEG) semiology of seizures, is mandatory for a correct diagnosis. The most frequent diagnostic dilemma is distinguishing NFLE seizures from parasomnic attacks. An effect of nicotine on the seizures was elegantly demonstrated in a controlled trial and may be explained by considering that the mutant nAChRs are altered and nicotine acts as an acetylcholine receptor agonist.
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The Causes of Epilepsy
Common and Uncommon Causes in Adults and Children
, pp. 70 - 73
Publisher: Cambridge University Press
Print publication year: 2011

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