| Author | : Giuliano Avanzini |
| File Size | : 50,5 Mb |
| Publisher | : John Libbey Eurotext |
| Language | : English |
| Release Date | : 07 May 2024 |
| ISBN | : 9782742007523 |
| Pages | : 281 pages |
Genetics of Epilepsy and Genetic Epilepsies by Giuliano Avanzini Book PDF Summary
This volume provides updated information on epilepsy genes, on the clinical picture of genetic epilepsies discovered so far, and on conceptual advances in the complicated area of genotype-phenotype correlations. Recent studies on monogenic epilepsies present new insights into mechanisms whereby a mutation of a single gene, coding for an ion channel, can result in a complex epileptic phenotype. The analysis of genetically-determined epileptogenic dysplasia is advancing our understanding of the role of genes in controlling normal and pathological brain development. The pathogenic mechanisms by which gene mutations determine progressive myoclonus epilepsies offer critical opportunities to understand the role of genetic factors in neurodegenerative phenome-na associated with an even broader range of progressive epilepsy types. The specialists who have contributed to this book are outstanding international experts in their respective fields, ensuring first and foremost that the reviews are of relevance to clinicians dealing with epilepsy in their daily practice, as well as providing the highest quality scientific information for biomedical research.