Pubblicazione conseguente al XX Corso di aggiornamento in Neurologia infantile (Venezia, marzo 2008)
Editors: G. Avanzini, J. Noebels
London-Paris, John Libbey Eurotext Ltd, 2009, pp. 280

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 phenomena 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.

Contents

Foreword
1) Genetic determinants in the epilepsies – Eva Andermann
2) Genes and the biology of complex epilepsy phenotypes – Jeffrey L. Noebels
3) Genes relevant to epileptogenic mechanisms – Katarzyna Majak and Asla Pitkänen
4) Definition of the phenotype for genetic studies – Amedeo Bianchi
5) Epilepsies due to epileptogenic channel gene mutations – Antonio Gambardella et al.
6) Functional analysis of epileptogenic ion channel mutations – Massimo Mantegazza and Giuliano Avanzini
7) Genotype-phenotype relationships in epilepsies caused by channel mutations – Beatriz G. Giraldez et al.
8) Genetic determinants of the migraine-epilepsy association – Filippo Dainese and Francesco Paladin
9) The concept of idiopathic epilepsy – Giuliano Avanzini and Bernardo Dalla Bernardina
10) Genetic causes of neonatal epileptic and non-epileptic events: channelopathies as the aetiology of seizures and epilepsies in the neonatal period – Massimo Mastrangelo et al.
11) Monogenic epilepsies due to mutations of genes that do not code for ion channels: autosomal dominant lateral temporal lobe epilepsy – Roberto Michelucci et al.
12) The spectrum of sodium channels related clinical entities – Federico Vigevano and Nicola Specchio
13) Epileptic syndromes associated with disorders of cortical development – Frederick Andermann

14) Maturation and migration determinants of corticogenesis – Roberto Spreafico et al.
15) Developmental basis of epilepsy and seizure susceptibility: role of Otx genes – Yuri Bozzi et al.
16) Cortical dysplasias of genetic origin – Elena Parrini et al.

17) Periventricular nodular heterotopia: clinical and genetic findings – Giorgio Battaglia et al.
18) Electroclinical features in malformations of cortical development – Francesca Ragona et al.
19) Progressive myoclonus epilepsies: genotype-phenotype relationships – Silvana Franceschetti et al.
20) Autosomal recessive progressive myoclonus epilepsy – Jean-Marie Girard et al.

21) Pharmacogenetics of drug resistance in epilepsy – Sanjay Sisodiya
22) Gene therapy and pathogenic therapy – Graziella Uziel and Giovanni Tricomi
23) The ketogenic diet – Pierangelo Veggiotti and Daniela Brazzo