There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and�…

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�…

Objectives To establish standards for early, cost-effective, and accurate diagnosis; optimal
therapies for seizures; and recommendations for evaluation and management of�…

Summary 10� 5 million children worldwide are estimated to have active epilepsy. Over the
past 15 years, syndrome-oriented clinical and EEG diagnosis, and better aetiological�…

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�…

Abstract Objective Behavior problems in Dravet syndrome (DS) are common and can impact
the lives of patients tremendously. The current study aimed to give more insight into (1) the�…

Purpose: To clarify the role of epilepsy and genetic background in determining the cognitive
outcome of patients with Dravet syndrome. Methods: In this retrospective study, we reviewed�…

Objective To characterize changes in gait by age in patients with Dravet syndrome. Design
Prospective, cross-sectional study. Setting Tertiary children's hospital. Patients Twenty-six�…

Dravet syndrome is an intractable epileptic encephalopathy characterized by early onset
epileptic seizures followed by cognitive decline, hyperactivity, autistic behaviors and ataxia�…

Objective We aimed to assess a cohort of young patients with Dravet syndrome (DS) for
intellectual disability (ID) and autism spectrum disorder (ASD) using standardized tools and�…