Objective: To determine the genes underlying Dravet syndrome in patients who do not have
an SCN1A mutation on routine testing. Methods: We performed whole-exome sequencing in …

Objective: We aimed to determine the type, frequency, and size of microchromosomal copy
number variations (CNVs) affecting the neuronal sodium channel α 1 subunit gene (SCN1A) …

Objective Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy
characterized by the onset of prolonged febrile and afebrile seizures in infancy, and evolving …

Background Mutations in SCN1A can cause genetic epilepsy with febrile seizures plus
(GEFS+, inherited missense mutations) or Dravet syndrome (DS, de novo mutations of all …

Before the advent of molecular genetics, the nature of Dravet syndrome remained largely
obscure, and arguments in favour of either an acquired origin, such as the occurrence of …

Objective: To define a distinct SCN1A developmental and epileptic encephalopathy with
early onset, profound impairment, and movement disorder. Methods: A case series of 9 …

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 …

Dravet syndrome is an archetypal rare severe epilepsy, considered 'monogenic', typically
caused by loss-of-function SCN1A variants. Despite a recognizable core phenotype, its …

Mutations in the gene encoding the α1 subunit of the voltage gated sodium channel (SCN
1A) are associated with several epilepsy syndromes, ranging from relatively mild …

Dravet syndrome is a severe form of epileptic encephalopathy characterized by early onset
epileptic seizures followed by ataxia and cognitive decline. Approximately 80% of patients …