Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome08:31

Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome

14.4K
An EEG experimental protocol is designed to clarify the interplay between conscious and non-conscious representations of emotional faces in patients with Asperger's syndrome. The technique suggests that patients with Asperger's syndrome have deficits in non-conscious representation of emotional faces, but have comparable performance in conscious representation with healthy...
14.4K
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

511
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
511
Modeling Osteosarcoma Using Li-Fraumeni Syndrome Patient-derived Induced Pluripotent Stem Cells08:52

Modeling Osteosarcoma Using Li-Fraumeni Syndrome Patient-derived Induced Pluripotent Stem Cells

9.3K
Here, we present a protocol for the generation of induced pluripotent Stem Cells (iPSCs) from Li-Fraumeni Syndrome (LFS) patient derived fibroblasts, differentiation of iPSCs via mesenchymal stem cells (MSCs) to osteoblasts, and modeling in vivo tumorigenesis using LFS patient-derived osteoblasts.
9.3K
Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome05:12

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

6.9K
Acute Wallenberg's syndrome can be misdiagnosed as a non-stroke disease, such as auditory vertigo. Thus, careful neurological examination, which is sometimes difficult for non-neurologists, is necessary for precise diagnosis. Here, we present a simple, rapid, noninvasive, and cost-effective method for detection of acute Wallenberg's syndrome using portable...
6.9K
Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome09:39

Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

3.5K
This protocol describes the generation of integration free iPSCs from fetal tissue fibroblasts through delivery of episomal plasmids by nucleofection followed by description of methods used for iPSC characterization and neuronal...
3.5K
Acute Coronary Syndrome I: Introduction01:30

Acute Coronary Syndrome I: Introduction

844
Acute Coronary Syndrome (ACS) encompasses a spectrum of heart conditions caused by sudden obstruction of coronary arteries, typically resulting from the rupture of an atherosclerotic plaque and subsequent thrombus (blood clot) formation. This obstruction can lead to partial or complete blockage of blood flow, causing varying degrees of myocardial ischemia or infarction.ACS includes the following clinical entities:Unstable Angina (UA)Non-ST-Elevation Myocardial Infarction (NSTEMI)ST-Elevation...
844

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Glucagon-like peptide-1 agonists in Parkinson's disease: a meta-analysis.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·2026
Same author

Floristic Diversity and Indicator Species Analysis Along Altitudinal Gradients of the Upper Indus Basin, Northern Pakistan.

Ecology and evolution·2026
Same author

Phytosociological analysis and floristic composition of fabaceae species assessing human impact and edaphic variables.

Scientific reports·2026
Same author

Associations between body mass index and patient reported biopsychosocial outcomes among patients with spine pain.

Interventional pain medicine·2026
Same author

RETRACTED: Patel et al. Effect Comparison of E-Cigarette and Traditional Smoking and Association with Stroke-A Cross-Sectional Study of NHANES. <i>Neurol. Int.</i> 2022, <i>14</i>, 441-452.

Neurology international·2025
Same author

Factors influencing timeliness of reporting results from multiple sclerosis related clinical trials to ClinicalTrials.gov.

Journal of the neurological sciences·2025

Related Experiment Video

Updated: Jan 19, 2026

Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome
08:31

Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome

Published on: July 31, 2016

14.4K

Dravet Syndrome: An Overview.

Arsalan Anwar1, Sidra Saleem2, Urvish K Patel3

  • 1Neurology, University Hospitals Cleveland Medical Center, Cleveland, USA.

Cureus
|September 10, 2019
PubMed
Summary
This summary is machine-generated.

Dravet syndrome (DS) is a severe infant epilepsy causing seizures, cognitive decline, and motor issues, often linked to SCN1A gene mutations. Current treatments are limited, driving research into new therapies to improve patient longevity.

Keywords:
anti-epileptic drugschildhood epileptic encephalopathiesdravet syndromeintractable epilepsymyoclonic epilepsy of infancyscn1a gene mutationsudep

More Related Videos

Modeling Osteosarcoma Using Li-Fraumeni Syndrome Patient-derived Induced Pluripotent Stem Cells
08:52

Modeling Osteosarcoma Using Li-Fraumeni Syndrome Patient-derived Induced Pluripotent Stem Cells

Published on: June 13, 2018

9.3K
Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
05:12

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

6.9K

Related Experiment Videos

Last Updated: Jan 19, 2026

Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome
08:31

Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome

Published on: July 31, 2016

14.4K
Modeling Osteosarcoma Using Li-Fraumeni Syndrome Patient-derived Induced Pluripotent Stem Cells
08:52

Modeling Osteosarcoma Using Li-Fraumeni Syndrome Patient-derived Induced Pluripotent Stem Cells

Published on: June 13, 2018

9.3K
Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
05:12

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

6.9K

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Dravet syndrome (DS), or severe myoclonic epilepsy of infancy (SMEI), is a rare, severe childhood epilepsy.
  • It presents with diverse seizures, progressive cognitive and motor deficits, and behavioral issues.
  • Convulsive seizures are the most frequent type observed in DS patients.

Purpose of the Study:

  • To summarize the key aspects of Dravet syndrome, including its etiology, clinical presentation, diagnosis, and current management strategies.
  • To highlight the challenges in treating drug-refractory epilepsy in DS.
  • To underscore the ongoing research for novel therapeutic interventions.

Main Methods:

  • Clinical diagnosis based on seizure patterns and developmental trajectory.
  • Genetic testing, particularly for SCN1A gene mutations, for confirmation.
  • Review of current treatment modalities and emerging therapies.

Main Results:

  • The most common cause of DS is a de novo mutation in the SCN1A gene, encoding the alpha-1 subunit of the voltage-gated calcium channel.
  • Diagnosis is primarily clinical, supported by genetic testing when necessary.
  • Existing treatments include anti-epileptic drugs, cannabinoids, ketogenic diet, and surgical interventions like deep brain and vagal nerve stimulation.

Conclusions:

  • Dravet syndrome is a complex, intractable epilepsy with significant long-term consequences.
  • The SCN1A gene mutation is a primary genetic driver.
  • Due to refractory epilepsy, research into novel therapies is crucial for improving patient outcomes and longevity.