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�…

Dravet syndrome is an epilepsy syndrome of infantile onset, frequently caused by SCN1A
mutations or deletions. Its prevalence, long-term evolution in adults and neuropathology are�…

Severe myoclonic epilepsy in infancy (SME) was described by Dravet in 1978 (1). In 1992,
there were at least 192 published cases (2). At present, it is more difficult to give a precise�…

Objective Two major classes of SCN 1A variants are associated with Dravet syndrome (DS):
those that result in haploinsufficiency (truncating) and those that result in an amino acid�…

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�…

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�…

A questionnaire survey was conducted in Japan to investigate the causes and prevalence of
death related to Dravet syndrome. The questionnaire was delivered to 246 hospitals at�…

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

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)�…