Poster (Scientific congresses and symposiums)
The role of intestinal cell kinase in interneurons, a protein mutated in Juvenile Myoclonic Epilepsy
Gilsoul, Maxime; Coumans, Bernard; Delgado-Escueta, Antonio et al.
2018Bscdb - Spring 2018
 

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Keywords :
Epilepsie Myoclonique Juvénile; ICK; Interneurones
Abstract :
[en] Intestinal cell kinase (ICK) is a serine/threonine kinase for which homozygous mutations have been associated with two neolethals syndrome (ECO & SRP) characterized by anomalies involving the endocrine, cerebral, and skeletal systems. More recently, novel heterozygous mutations (Fig.1) have been associated with juvenile myoclonic epilepsy (JME). Using ex-vivo electroporation, it has been demonstrated that pathogenic mutations affect the physiology of neural progenitor (mitosis, cell cycle & apoptosis) and radial migration in mouse neocortex. Considering epilepsy as an imbalance between excitation and inhibition, it appeared us interesting to complete the study with the effect of JME mutations on inhibitory side and so to determine the role of ICK in interneurons (INs).
Research Center/Unit :
Giga-Neurosciences - ULiège
Disciplines :
Biochemistry, biophysics & molecular biology
Author, co-author :
Gilsoul, Maxime ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique
Coumans, Bernard ;  Université de Liège - ULiège > Neurosciences-Molecular Regulation of Neurogenesis
Delgado-Escueta, Antonio;  Greater Los Angeles Healthcare System David Geffen School of Medicine - UCLA West Los Angeles > Epilepsy Genetics/Genomics Laboratories
de Nijs, Laurence;  MHeNS, Maastricht University > Psychiatrie & Neuropsychologie
Language :
English
Title :
The role of intestinal cell kinase in interneurons, a protein mutated in Juvenile Myoclonic Epilepsy
Publication date :
08 June 2018
Event name :
Bscdb - Spring 2018
Event place :
Liège, Belgium
Event date :
08 juin 2018
Funders :
F.R.S.-FNRS - Fonds de la Recherche Scientifique [BE]
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since 14 March 2019

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