Genetics of Epilepsy and Genetic Epilepsies

Livre anglais

Giuliano Avanzini, Jeffrey Noebels - Collection Mariani Foudation Paediatric Neurology

272 pages, parution le 10/12/2009

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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.

L'auteur - Giuliano Avanzini

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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

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Caractéristiques techniques

	PAPIER	NUMERIQUE
Éditeur(s)	John Libbey
Auteur(s)	Giuliano Avanzini, Jeffrey Noebels
Collection	Mariani Foudation Paediatric Neurology
Parution	10/12/2009	10/12/2009
Nb. de pages	272	272
Format	17 x 24	-
Couverture	Relié	-
Poids	700g	-
Intérieur	Noir et Blanc	-
Contenu	-	ePub + PDF
EAN13	9782742007523	9782742012268
ISBN13	978-2-7420-0752-3	-