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Résumé

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.

Sommaire

  • Genetic determinants in the epilepsies
  • Genes and the biology of complex epilepsy phenotypes
  • Genes relevant to epileptogenic mechanisms
  • Definition of the phenotype for genetic studies
  • Epilepsies due to epileptogenic channel gene mutations
  • Functional analysis of epileptogenic ion channel mutations
  • Genotype-phenotype relationships in epilepsies caused by channel mutations
  • Genetic determinants of the migraine-epilepsy association
  • The concept of idiopathic epilepsy
  • Genetic causes of neonatal epileptic and non-epileptic events: channelopathies as the aetiology of seizures and epilepsies in the neonatal period
  • Monogenic epilepsies due to mutations of genes that do not code for ion channels: autosomal dominant lateral temporal lobe epilepsy
  • The spectrum of sodium channel-related clinical entities
  • Epileptic syndromes associated with disorders of cortical development
  • Maturation and migration determinants of corticogenesis
  • Developmental basis of epilepsy and seizure susceptibility: role of Otx genes
  • Cortical dysplasias of genetic origin
  • Periventricular nodular heterotopia: clinical and genetic findings
  • Electroclinical features in malformations of cortical development
  • Progressive myoclonus epilepsies: genotype-phenotype relationships
  • Autosomal recessive progressive myoclonus epilepsy
  • Pharmacogenetics of drug resistance in epilepsy
  • Gene therapy and pathogenic therapy
  • The ketogenic diet

Caractéristiques

Editeur : John Libbey

Auteur(s) : Giuliano Avanzini, Jeffrey Noebels

Collection : Mariani Foudation Paediatric Neurology

Publication : 10 décembre 2009

Edition : 1ère édition

Intérieur : Noir & blanc

Support(s) : eBook [PDF + ePub]

Contenu(s) : PDF, ePub

Protection(s) : Marquage social (PDF), Marquage social (ePub)

Taille(s) : 17 Mo (PDF), 5,7 Mo (ePub)

Langue(s) : Anglais

Code(s) CLIL : 3165

EAN13 eBook [PDF + ePub] : 9782742012268

EAN13 (papier) : 9782742007523

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