ORBi: Grisar Thierry - Some genetic and biochemical aspects of myoclonus

Reference : Some genetic and biochemical aspects of myoclonus


	Document type :	Scientific journals : Article
	Discipline(s) :	Human health sciences : Neurology Social & behavioral sciences, psychology : Neurosciences & behavior Life sciences : Anatomy (cytology, histology, embryology...) & physiology
	To cite this reference:	http://hdl.handle.net/2268/27604

Title :	Some genetic and biochemical aspects of myoclonus
Language :	English
Author, co-author :	Grisar, Thierry [Université de Liège - ULg > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique]
	de Nijs, Laurence [Université de Liège - ULg > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique >]
	Chanas, G. [> > > >]
	Leon, Christine [Université de Liège - ULg > > CNCM/ Centre fac. de rech. en neurobiologie cell. et moléc. >]
	Coumans, Bernard [Université de Liège - ULg > > CNCM/ Centre fac. de rech. en neurobiologie cell. et moléc. >]
	Foidart, Agnès [Université de Liège - ULg > Services généraux (Faculté de médecine) > Service administratif de la Faculté (Médecine) >]
	Lakaye, Bernard [Université de Liège - ULg > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique >]
Publication date :	2006
Journal title :	Neurophysiologie Clinique = Clinical Neurophysiology
Publisher :	Elsevier France-Editions Scientifiques Medicales Elsevier
Volume :	36
Issue/season :	5-6, Sep-Dec
Pages :	271-279
Peer reviewed :	Yes (verified by ORBi)
Audience :	International
ISSN :	0987-7053
City :	Paris
Keywords :	[en] myoclonus ; epilepsy ; myoclonin 1 ; genetic defects
Abstract :	[en] Can a gene defect be responsible for the occurrence in an individual, at a particular age, of such a muscle twitch followed by relaxation called: "myoclonus" and defined as sudden, brief, shock-like movements? Genetic defects could indeed determine a subsequent cascade of molecular events (caused by abnormal encoded proteins) that would produce new aberrant cellular relationships in a particular area of the CNS leading to re-builded "myoclonogenic" neuronal networks. This can be illustrated reviewing some inherited neurological entities that are characterized by a predominant myoclonic picture and among which a clear gene defect has been identified. In the second part of this chapter, we will also propose a new point of view on how some structural genes could, under certain conditions, when altered, produced idiopathic generalized epilepsy with myoclonic jerks, taking juvenile myoclonic epilepsy (JME) and the myoclonin (EFHC-1) gene as examples. (c) 2007 Elsevier Masson SAS. All rights reserved.
Permalink :	http://hdl.handle.net/2268/27604
DOI :	10.1016/j.neucli.2006.11.002

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