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Dravet Syndrome

 

De Charlotte Dravet et Renzo Guerrini

 

John Libbey - Collection : Topics in Epilepsy - octobre 2011

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    Présentation

    Dravet syndrome is a rare and severe type of epilepsy. "Severe myoclonic epilepsy in infancy" was first described in 1978 by Charlotte Dravet, who observed common features: onset in the first year of life, fever sensitivity, multiple seizure types, often including myoclonic seizures, and cognitive deterioration. Subsequent descriptions contributed to delineating a newly recognised epilepsy syndrome. Renzo Guerrini contributed to the knowledge of the genetic basis and response to anti epileptic drugs of Dravet syndrome. New molecules have emerged, and studies on cognitive development have qualified the impairment. Families' associations have also contributed to a better knowledge of the syndrome.

    Charlotte Dravet and Renzo Guerrini present here the state of current knowledge about this epilepsy type.

    This book aims to provide more information on the syndrome to those neurologists, child neurologists, and pediatricians confronted with infants, children and adults who either have or are suspected to have Dravet syndrome. Even if significant gaps in our understanding of the syndrome remain, the authors hope this contribution may assist in the understanding of the disease and optimization of treatments.

    Sommaire

    • Historical, Definition, Epidemiology
    • Clinical and EEG Description: Onset - Steady state
    • Psychomotor and Cognitive Development: Older psychometric data - Recent neuropsychological studies
    • Neuroimaging and neuropathology: MRI findings - SPECT findings - Neuropathology - The uncertain meaning of structural changes
    • The genetics of Dravet syndrome: Sodium channel A1 and Dravet syndrome - Dravet syndrome without SCN1A alterations - Genotype-phenotype correlations - SCN1A mutations associated with other forms of epilepsy and with non-epilepsy phenotypes - Functional effects of voltage-gated sodium channel A1 mutations - Genetic markers and syndrome definition
    • Differential Diagnosis and Diagnostic Workup: Diagnosis - Differential diagnosis - Diagnostic workup
    • Treatment and Management: Which antiepileptic drugs are useful? - Which antiepileptic drugs should be avoided? - Alternative treatments - When to start continuous treatment and how to conduct it? - How to treat seizures and status epilepticus - What about compulsory vaccinations? - How to manage miscellaneous problems - How to help families
    • Long-Term Outcome : Seizures - EEG - Neurological signs and motor ability - Cognitive, behavioural and social outcome - How to diagnose SMEI in adults - Mortality
    • Case Reports and Words from Parents

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