000			01826cam a2200301zu 4500
001			88842079
003			FRCYB88842079
005			20250107104530.0
006			m o d
007			cr un
008			250107s2017 fr | o|||||0|0|||eng d
020			_a9782742014880
035			_aFRCYB88842079
040			_aFR-PaCSA _ben _c _erda
100	1		_aAvanzini, Giuliano
245	0	1	_aProgressive Myoclonus Epilepsies _bState of the Art _c['Avanzini, Giuliano', 'Striano, Pascale', 'Minassian, Berge A.']
264		1	_bJohn Libbey Eurotext _c2017
300			_a p.
336			_btxt _2rdacontent
337			_bc _2rdamdedia
338			_bc _2rdacarrier
650		0	_a
700	0		_aAvanzini, Giuliano
700	0		_aStriano, Pascale
700	0		_aMinassian, Berge A.
856	4	0	_2Cyberlibris _uhttps://international.scholarvox.com/netsen/book/88842079 _qtext/html _a
520			_aProgressive myoclonus epilepsy strikes healthy children and has a slow yet devastating impact upon their lives. Almost all forms are caused by single gene defects, the majority of which were identified during the genomic era. Accurate clinical diagnosis is now straightforward and research into pathogenesis builds upon our understanding of causation. Future research is likely to lead to new therapeutic approaches while providing us with a better understanding of how the brain, the very essence of our being, operates, gene by gene. As we stand on the cusp of the post-genomic era, the emergence of unprecedented new tools, such as CRISPR and adeno-associated viruses, offers hope that these monogenetic diseases may one day be eliminated altogether. This book outlines the genetic, pathogenetic, pathological, and clinical aspects of progressive myoclonus epilepsies within the context of the post-genomic era.
999			_c15167 _d15167