Reference : Some genetic and biochemical aspects of myoclonus
Scientific journals : Article
Human health sciences : Neurology
Social & behavioral sciences, psychology : Neurosciences & behavior
Life sciences : Anatomy (cytology, histology, embryology...) & physiology
http://hdl.handle.net/2268/27604
Some genetic and biochemical aspects of myoclonus
English
Grisar, Thierry mailto [Université de Liège - ULg > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique]
de Nijs, Laurence mailto [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 mailto [Université de Liège - ULg > > CNCM/ Centre fac. de rech. en neurobiologie cell. et moléc. >]
Foidart, Agnès mailto [Université de Liège - ULg > Services généraux (Faculté de médecine) > Service administratif de la Faculté (Médecine) >]
Lakaye, Bernard mailto [Université de Liège - ULg > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique >]
2006
Neurophysiologie Clinique = Clinical Neurophysiology
Elsevier France-Editions Scientifiques Medicales Elsevier
36
5-6, Sep-Dec
271-279
Yes (verified by ORBi)
International
0987-7053
Paris
[en] myoclonus ; epilepsy ; myoclonin 1 ; genetic defects
[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.
http://hdl.handle.net/2268/27604
10.1016/j.neucli.2006.11.002

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