Dravet Syndrome (2e édition)

Name: Dravet Syndrome (2e édition)
Brand: Dravet, Charlotte
SKU: NW-9782742016532
Price: 35.0 EUR
Availability: InStock

Le Pitch

PrésentationDravetsyndrome is defined as a rare, genetic encephalopathy.It is characterised by infantile onset of intractable, often febrile seizures, and is associated with cognitive and motor impairment. The syndrome is considered a paradigm of developmental and epileptic encephalopathies by clinicians, scientists and regulatory agencies. The initial descriptions of patients, made in 1978 by Dr. Dravetas“Severe myoclonic epilepsy in infancy”, identified the core syndrome manifestations and provided the bases for subsequent worldwide research that led to identifying it as a channelopathy caused by genetic abnormalities in the SCN1A gene. Pr. Guerrini contributed to the knowledge of the genetic bases and response to antiseizure medications of thesyndrome. Since then, new molecules have emerged, and studieson cognitive and motor development have characterised the outcome, including in adulthood. Families’ associations and disease registries have been created internationally, helping delineatingnatural history and long term safety of treatments. Charlotte Dravet and Renzo Guerrini present here the stateof current knowledge about the syndrome. This book provides comprehensive information to neurologists, child neurologists, and pediatricians confronted with infants, children and adults who either have or are suspected to have it. Newly added data on genetics, pathomechanisms and antiseizure medications trials make this book of considerable interest also to geneticists, researchers and clinical pharmacologists involved at any level in the study of this complex syndrome. Even if gaps remain in the understanding of the syndrome, theauthors hope that this second edition will allow a greater comprehension, leading to better treatments and medical care.,4e de couvertureDravet syndrome is defined as a rare, genetic encephalopathy. It is characterised by infantile onset of intractable, often febrile seizures, and is associated with cognitive and motor impairment. The syndrome is considered a paradigm of developmental and epileptic encephalopathies by clinicians, scientists and regulatory agencies. The initial descriptions of patients, made in 1978 by Dr. Dravet as“Severe myoclonic epilepsy in infancy”, identified the core syndrome manifestations and provided the bases for subsequent worldwide research that led to identifying it as a channelopathy caused by genetic abnormalities in the SCN1A gene. Pr. Guerrini contributed to the knowledge of the genetic bases and response to antiseizure medications of thesyndrome. Since then, new molecules have emerged, and studies on cognitive and motor development have characterised the outcome, including in adulthood. Families’ associations and disease registries have been created internationally, helping delineatingnatural history and long term safety of treatments. Charlotte Dravet and Renzo Guerrini present here the state of current knowledge about the syndrome. This book provides comprehensive information to neurologists, child neurologists, and pediatricians confronted with infants, children and adults who either have or are suspected to have it. Newly added data on genetics, pathomechanisms and antiseizure medications trials make this book of considerable interest also to geneticists, researchers and clinical pharmacologists involved at any level in the study of this complex syndrome. Even if gaps remain in the understanding of the syndrome, the authors hope that this second edition will allow a greater comprehension, leading to better treatments and medical care. Afficher moinsAfficher plus

Dravet, Charlotte

Dravet Syndrome (2e édition)

35,00 €

Le Pitch

PrésentationDravetsyndrome is defined as a rare, genetic encephalopathy.It is characterised by infantile onset of intractable, often febrile seizures, and is associated with cognitive and motor impairment. The syndrome is considered a paradigm of developmental and epileptic encephalopathies by clinicians, scientists and regulatory agencies. The initial descriptions of patients, made in 1978 by Dr. Dravetas“Severe myoclonic epilepsy in infancy”, identified the core syndrome manifestations and provided the bases for subsequent worldwide research that led to identifying it as a channelopathy caused by genetic abnormalities in the SCN1A gene. Pr. Guerrini contributed to the knowledge of the genetic bases and response to antiseizure medications of thesyndrome. Since then, new molecules have emerged, and studieson cognitive and motor development have characterised the outcome, including in adulthood. Families’ associations and disease registries have been created internationally, helping delineatingnatural history and long term safety of treatments. Charlotte Dravet and Renzo Guerrini present here the stateof current knowledge about the syndrome. This book provides comprehensive information to neurologists, child neurologists, and pediatricians confronted with infants, children and adults who either have or are suspected to have it. Newly added data on genetics, pathomechanisms and antiseizure medications trials make this book of considerable interest also to geneticists, researchers and clinical pharmacologists involved at any level in the study of this complex syndrome. Even if gaps remain in the understanding of the syndrome, theauthors hope that this second edition will allow a greater comprehension, leading to better treatments and medical care.,4e de couvertureDravet syndrome is defined as a rare, genetic encephalopathy. It is characterised by infantile onset of intractable, often febrile seizures, and is associated with cognitive and motor impairment. The syndrome is considered a paradigm of developmental and epileptic encephalopathies by clinicians, scientists and regulatory agencies. The initial descriptions of patients, made in 1978 by Dr. Dravet as“Severe myoclonic epilepsy in infancy”, identified the core syndrome manifestations and provided the bases for subsequent worldwide research that led to identifying it as a channelopathy caused by genetic abnormalities in the SCN1A gene. Pr. Guerrini contributed to the knowledge of the genetic bases and response to antiseizure medications of thesyndrome. Since then, new molecules have emerged, and studies on cognitive and motor development have characterised the outcome, including in adulthood. Families’ associations and disease registries have been created internationally, helping delineatingnatural history and long term safety of treatments. Charlotte Dravet and Renzo Guerrini present here the state of current knowledge about the syndrome. This book provides comprehensive information to neurologists, child neurologists, and pediatricians confronted with infants, children and adults who either have or are suspected to have it. Newly added data on genetics, pathomechanisms and antiseizure medications trials make this book of considerable interest also to geneticists, researchers and clinical pharmacologists involved at any level in the study of this complex syndrome. Even if gaps remain in the understanding of the syndrome, the authors hope that this second edition will allow a greater comprehension, leading to better treatments and medical care. Afficher moinsAfficher plus