Results 21 to 30 of about 1,141,201 (199)
Proteomic signature of the Dravet syndrome in the genetic Scn1a-A1783V mouse model
Neurobiology of Disease, 2021 Background: Dravet syndrome is a rare, severe pediatric epileptic encephalopathy associated with intellectual and motor disabilities. Proteomic profiling in a mouse model of Dravet syndrome can provide information about the molecular consequences of the ...
Nina Miljanovic +5 more
doaj +1 more source
Patient with Dravet syndrome: A case report
Clinical Case Reports, 2022 Dravet syndrome is rare genetic epilepsy syndrome and epileptic encephalopathy. The patient initially has normal developmental profile with plateau or regression that begins after seizure onset.
Rukesh Yadav +7 more
doaj +1 more source
Perampanel Reduces Hyperthermia-Induced Seizures in Dravet Syndrome Mouse Model
Frontiers in Pharmacology, 2021 Treatment options for Dravet syndrome are limited. The aim of this study was to evaluate the antiepileptic effect of the AMPA receptor antagonist perampanel (PER) on a mouse model of Dravet syndrome (Scn1aE1099X/+).
Shih-Yin Ho +8 more
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Seizures in children with Dravet syndrome in extreme heat: A qualitative study of parental perspectives. [PDF]
Dev Med Child NeurolPerspectives of parents of children with Dravet syndrome indicate that extreme heat and high temperatures exacerbate epileptic seizures, introduce new seizure triggers, and require the adoption of specific seizure‑management strategies. This original article is commented by Hood on pages 1338–1339 of this issue.
Aledo-Serrano A +8 more
europepmc +2 more sources
Genetic therapeutic advancements for Dravet Syndrome [PDF]
, 2022 Dravet Syndrome is a genetic epileptic syndrome characterized by severe and intractable seizures associated with cognitive, motor, and behavioral impairments.
Chilcott, E +4 more
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Seizure reduction with fluoxetine in an adult woman with Dravet syndrome
Epilepsy and Behavior Case Reports, 2014 An adult woman with Dravet syndrome (documented SCN1A mutation) experienced a marked reduction in seizures when treated with the selective serotonin reuptake inhibitor (SSRI) fluoxetine.
Kimford J. Meador
doaj +1 more source
Current Pharmacologic Strategies for Treatment of Intractable Epilepsy in Children [PDF]
International Neurourology Journal, 2021 Epileptic encephalopathy (EE) is a devastating pediatric disease that features medically resistant seizures, which can contribute to global developmental delays.
Ja Un Moon, Kyung-Ok Cho
doaj +1 more source
eLife, 2016 Dravet Syndrome is an intractable form of childhood epilepsy associated with deleterious mutations in SCN1A, the gene encoding neuronal sodium channel Nav1.1.
Yishan Sun +17 more
doaj +1 more source
A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review
Frontiers in Pediatrics, 2022 In the recent 3 years, subjects with Pumilio1-associated developmental disability, ataxia, and seizure syndrome have been identified as harboring Pumilio homolog 1 (PUM1) mutations.
Yuanzhen Ye +6 more
doaj +1 more source
The social and emotional burden of Dravet syndrome on Spanish caregivers
HeliyonBackground: Dravet syndrome (DS) is a rare developmental and epileptic encephalopathy that presents with frequent and prolonged seizures resistant to treatment as well as cognitive problems such as behavioral and developmental delays. However, there is a
Naiara Sánchez Marco +2 more
doaj +1 more source