Dravet syndrome history
C Dravet�- Developmental Medicine & Child Neurology, 2011 - Wiley Online Library
Severe myoclonic epilepsy of infancy (SMEI) is a complex form of epilepsy that was first
described in France in 1978. Because the myoclonic component of this epilepsy is not�…
described in France in 1978. Because the myoclonic component of this epilepsy is not�…
Dravet syndrome (severe myoclonic epilepsy in infancy)
C Dravet, H Oguni�- Handbook of clinical neurology, 2013 - Elsevier
Severe myoclonic epilepsy in infancy (SMEI) is a rare disease, characterized by febrile and
afebrile, generalized and unilateral, clonic or tonic–clonic seizures that occur in the first year�…
afebrile, generalized and unilateral, clonic or tonic–clonic seizures that occur in the first year�…
Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings
M Wolff, C Cass�‐Perrot, C Dravet�- Epilepsia, 2006 - Wiley Online Library
Severe Myoclonic Epilepsy in infancy (SMEI, or Dravet syndrome) is a drug‐resistant
epilepsy that occurs in the first year of life of previously healthy children. The main clinical�…
epilepsy that occurs in the first year of life of previously healthy children. The main clinical�…
Dravet syndrome (severe myoclonic epilepsy in infancy): a retrospective study of 16 patients
C Korff, L Laux, K Kelley, J Goldstein…�- Journal of child�…, 2007 - journals.sagepub.com
To report the authors' experience with diagnosis and management of Dravet syndrome, or
severe myoclonic epilepsy in infancy, in the era of commercially available genetic testing�…
severe myoclonic epilepsy in infancy, in the era of commercially available genetic testing�…
Child Neurology: Dravet syndrome: when to suspect the diagnosis
JJ Millichap, S Koh, LC Laux, DR Nordli Jr�- Neurology, 2009 - AAN Enterprises
Dravet syndrome (DS), previously known as severe myoclonic epilepsy in infancy (SMEI), is
an epileptic encephalopathy that presents with prolonged seizures in the first year of life�…
an epileptic encephalopathy that presents with prolonged seizures in the first year of life�…
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy
L Claes, B Ceulemans, D Audenaert, K Smets…�- Human�…, 2003 - Wiley Online Library
Severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) is a rare disorder occurring
in young children often without a family history of a similar disorder. The earliest disease�…
in young children often without a family history of a similar disorder. The earliest disease�…
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype–phenotype correlations
P Striano, MM Mancardi, R Biancheri, F Madia…�- …, 2007 - Wiley Online Library
Introduction: To determine the occurrence of neuroradiological abnormalities and to perform
genotype–phenotype correlations in severe myoclonic epilepsy of infancy (SMEI, Dravet�…
genotype–phenotype correlations in severe myoclonic epilepsy of infancy (SMEI, Dravet�…
Microdeletions involving the SCN1A gene may be common in SCN1A‐mutation‐negative SMEI patients
A Suls, KG Claeys, D Goossens, B Harding…�- Human�…, 2006 - Wiley Online Library
Severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome is a rare epilepsy
syndrome. In 30 to 70% of SMEI patients, truncating and missense mutations in the neuronal�…
syndrome. In 30 to 70% of SMEI patients, truncating and missense mutations in the neuronal�…
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
C Depienne, O Trouillard, C Saint-Martin…�- Journal of medical�…, 2009 - jmg.bmj.com
Introduction: Mutations in the voltage-gated sodium channel SCN1A gene are the main
genetic cause of Dravet syndrome (previously called severe myoclonic epilepsy of infancy or�…
genetic cause of Dravet syndrome (previously called severe myoclonic epilepsy of infancy or�…
Neuropsychological development in children with Dravet syndrome
D Chieffo, D Battaglia, D Lettori, M Del Re, C Brogna…�- Epilepsy research, 2011 - Elsevier
PURPOSE: Aim of this study is to report a detailed profile of neuropsychological
development in children with Dravet syndrome. METHODS: Twelve children with Dravet�…
development in children with Dravet syndrome. METHODS: Twelve children with Dravet�…