The core Dravet syndrome phenotype
C Dravet�- Epilepsia, 2011 - Wiley Online Library
Dravet syndrome was described in 1978 by Dravet (1978) under the name of severe
myoclonic epilepsy in infancy (SMEI). The characteristics of the syndrome were confirmed�…
myoclonic epilepsy in infancy (SMEI). The characteristics of the syndrome were confirmed�…
Cognitive and neurodevelopmental comorbidities in paediatric epilepsy
KC Nickels, MJ Zaccariello, LD Hamiwka…�- Nature Reviews�…, 2016 - nature.com
Cognitive and behavioural comorbidities are often seen in children with epilepsy, and are
more common and severe in refractory epilepsy. These comorbidities are associated with�…
more common and severe in refractory epilepsy. These comorbidities are associated with�…
Optimizing the diagnosis and management of Dravet syndrome: recommendations from a North American consensus panel
EC Wirrell, L Laux, E Donner, N Jette, K Knupp…�- Pediatric�…, 2017 - Elsevier
Objectives To establish standards for early, cost-effective, and accurate diagnosis; optimal
therapies for seizures; and recommendations for evaluation and management of�…
therapies for seizures; and recommendations for evaluation and management of�…
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome
A Brunklaus, R Ellis, E Reavey, GH Forbes, SM Zuberi�- Brain, 2012 - academic.oup.com
Dravet syndrome is a severe infantile onset epileptic encephalopathy associated with
mutations in the sodium channel alpha 1 subunit gene SCN1A. To date no large studies�…
mutations in the sodium channel alpha 1 subunit gene SCN1A. To date no large studies�…
Incidence of Dravet syndrome in a US population
YW Wu, J Sullivan, SS McDaniel, MH Meisler…�- …, 2015 - publications.aap.org
OBJECTIVE: De novo mutations of the gene sodium channel 1α (SCN1A) are the major
cause of Dravet syndrome, an infantile epileptic encephalopathy. US incidence of DS has�…
cause of Dravet syndrome, an infantile epileptic encephalopathy. US incidence of DS has�…
Prevalence and risk factors for autism spectrum disorder in epilepsy: a systematic review and meta‐analysis
L Strasser, M Downes, J Kung…�- …�Medicine & Child�…, 2018 - Wiley Online Library
Aim To assess the prevalence and risk factors for autism spectrum disorder (ASD) in
epilepsy, and to better understand the relationship and comorbidity between these�…
epilepsy, and to better understand the relationship and comorbidity between these�…
Quality of life and comorbidities associated with Dravet syndrome severity: a multinational cohort survey
L Lagae, I Brambilla, A Mingorance…�- …�Medicine & Child�…, 2018 - Wiley Online Library
Aim To test the hypothesis that higher seizure burden in Dravet syndrome is associated with
increased comorbidities and lower quality of life (QoL) in a large cohort of patients with�…
increased comorbidities and lower quality of life (QoL) in a large cohort of patients with�…
Guidance on Dravet syndrome from infant to adult care: road map for treatment planning in Europe
E Cardenal‐Mu�oz, S Auvin, V Villanueva…�- Epilepsia�…, 2022 - Wiley Online Library
Dravet syndrome (DS) is a severe, rare, and complex developmental and epileptic
encephalopathy affecting 1 in 16 000 live births and characterized by a drug‐resistant�…
encephalopathy affecting 1 in 16 000 live births and characterized by a drug‐resistant�…
Neurocognitive effects of antiseizure medications in children and adolescents with epilepsy
FMC Besag, MJ Vasey�- Pediatric Drugs, 2021 - Springer
Impairments in cognition are common in epilepsy and may be caused or exacerbated by
antiseizure medications (ASMs). Positive effects on cognition may also be seen with some�…
antiseizure medications (ASMs). Positive effects on cognition may also be seen with some�…
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic'condition
Dravet syndrome is an archetypal rare severe epilepsy, considered 'monogenic', typically
caused by loss-of-function SCN1A variants. Despite a recognizable core phenotype, its�…
caused by loss-of-function SCN1A variants. Despite a recognizable core phenotype, its�…