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

Understanding the Self01:28

Understanding the Self

324
The self is a central aspect of human identity, encompassing an individual’s beliefs, emotions, perceptions, and experiences. It is a cognitive and psychological construct that enables individuals to interpret their traits and behaviors, influencing how they perceive themselves and interact with the world. While personality consists of stable and enduring characteristics, the self is shaped by self-perception and social experiences. This distinction highlights the dynamic nature of the...
324
Understanding Self-Concept01:20

Understanding Self-Concept

312
The self-concept encompasses individuals' beliefs about themselves, structured through cognitive frameworks known as self-schemas. These schemas function as mental representations of specific traits or behaviors, influencing how self-relevant information is perceived, processed, and remembered. For example, individuals who are schematic for body weight are more likely to interpret routine experiences—such as dining out or shopping—through the lens of that trait. Conversely, those...
312
Understanding Deception01:14

Understanding Deception

173
Deception is a pervasive aspect of human communication. Empirical studies have shown that most individuals engage in some form of deceit on a daily basis, with approximately 20% of social exchanges involving deceptive elements. Lying follows a developmental trajectory, peaking during adolescence and declining with age, possibly due to the maturation of cognitive control and social accountability.Cognitive and Social Factors in Deception DetectionDespite its prevalence, accurately detecting...
173
Understanding Love01:27

Understanding Love

194
Love, as a multifaceted psychological construct, encompasses emotions, cognitive processes, and behavioral patterns that play a crucial role in human relationships. It extends beyond attraction, manifesting in deep, enduring connections that influence personal well-being and social structures.Psychological Dimensions of LoveLove differs from friendship and mere liking through its depth and intensity. While friendship is built on mutual respect, trust, and companionship, love involves emotional...
194
Understanding Consciousness01:23

Understanding Consciousness

2.2K
Consciousness can be defined as the state of being aware of and able to think about one's existence, sensations, and surroundings. It encompasses two major components: awareness and arousal. Awareness pertains to the recognition of environmental stimuli and internal states. At the same time, arousal refers to the physiological readiness to engage with these stimuli, which varies significantly between states like sleep and wakefulness.
Sleep, a crucial state, is characterized by reduced...
2.2K
Understanding Sleep01:11

Understanding Sleep

1.6K
Sleep, an essential biological state, involves significant reductions in physical activity, sensory awareness, and interaction with the environment. This complex physiological process is primarily regulated by specific brain regions, notably the hypothalamus and pons, which govern the sleep-wake cycle or circadian rhythm.
The circadian rhythm, a nearly 24-hour cycle, is deeply influenced by environmental light cues. Light exposure directly affects the hypothalamus, which in turn regulates...
1.6K

You might also read

Related Articles

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

Sort by
Same author

Protein-enhanced small molecule disruptors of ordered membrane domains.

Proceedings of the National Academy of Sciences of the United States of America·2026
Same author

Excitatory Dysfunction and Phenotypic Rescue in a Human Neuronal Model of <i>SCN2A</i>-Related Disorders.

bioRxiv : the preprint server for biology·2026
Same author

ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

Genome-wide association study of copy number variations in Parkinson's disease.

NPJ Parkinson's disease·2026
Same author

Exome sequencing identifies additional pathogenic variants in neurodevelopmental genes in 3.6% of individuals with tuberous sclerosis complex.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

Combining automated patch clamp with optogenetics enables selective recording of DRG neurons subtypes.

bioRxiv : the preprint server for biology·2026
Same journal

Ventral tegmental area circuits in defensive states: Emerging mechanisms of fear and anxiety.

Trends in neurosciences·2026
Same journal

Brain rhythms of depression: A predictive processing perspective.

Trends in neurosciences·2026
Same journal

Building neuroscience capacity in low- and middle-income countries: Lessons from Ghana.

Trends in neurosciences·2026
Same journal

Emulating the periodic table: A unified list of CNS terms and abbreviations for humans and experimental animals.

Trends in neurosciences·2026
Same journal

From chromatin dynamics to brain disease: Polycomb-Trithorax mechanisms in neurodevelopment.

Trends in neurosciences·2026
Same journal

Striatum regulates the cortex via the basal forebrain cholinergic system: A role for substance P.

Trends in neurosciences·2026
See all related articles

Related Experiment Video

Updated: Feb 11, 2026

Protocol for Repetitive Transcranial Magnetic Stimulation with Symptom Provocation to Treat Obsessive-compulsive Disorder
11:11

Protocol for Repetitive Transcranial Magnetic Stimulation with Symptom Provocation to Treat Obsessive-compulsive Disorder

Published on: November 25, 2025

414

Progress in Understanding and Treating SCN2A-Mediated Disorders.

Stephan J Sanders1, Arthur J Campbell2, Jeffrey R Cottrell2

  • 1Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.

Trends in Neurosciences
|April 26, 2018
PubMed
Summary
This summary is machine-generated.

SCN2A gene dysfunction causes infantile seizures, autism, and intellectual disability. Understanding genotype-phenotype links guides treatments targeting sodium channel NaV1.2 function.

Keywords:
Na(V)1.2autism spectrum disorderdevelopmental delayepilepsyintellectual disabilityneurodevelopmentneurodevelopmental disordersodium channel

More Related Videos

Author Spotlight: Traditional Chinese Medicine for Sleep Disorders in Acute COPD &#8212; A Safe, Cost-Effective Approach
04:53

Author Spotlight: Traditional Chinese Medicine for Sleep Disorders in Acute COPD — A Safe, Cost-Effective Approach

Published on: October 18, 2024

1.5K
The Motivation for Alcohol Reward: Predictors of Progressive-Ratio Intravenous Alcohol Self-Administration in Humans
05:40

The Motivation for Alcohol Reward: Predictors of Progressive-Ratio Intravenous Alcohol Self-Administration in Humans

Published on: April 28, 2022

3.6K

Related Experiment Videos

Last Updated: Feb 11, 2026

Protocol for Repetitive Transcranial Magnetic Stimulation with Symptom Provocation to Treat Obsessive-compulsive Disorder
11:11

Protocol for Repetitive Transcranial Magnetic Stimulation with Symptom Provocation to Treat Obsessive-compulsive Disorder

Published on: November 25, 2025

414
Author Spotlight: Traditional Chinese Medicine for Sleep Disorders in Acute COPD &#8212; A Safe, Cost-Effective Approach
04:53

Author Spotlight: Traditional Chinese Medicine for Sleep Disorders in Acute COPD — A Safe, Cost-Effective Approach

Published on: October 18, 2024

1.5K
The Motivation for Alcohol Reward: Predictors of Progressive-Ratio Intravenous Alcohol Self-Administration in Humans
05:40

The Motivation for Alcohol Reward: Predictors of Progressive-Ratio Intravenous Alcohol Self-Administration in Humans

Published on: April 28, 2022

3.6K

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Advances in gene discovery highlight SCN2A mutations as a primary cause of severe neurodevelopmental disorders.
  • SCN2A encodes the crucial neuronal sodium channel NaV1.2, essential for brain function.

Purpose of the Study:

  • To review progress in understanding SCN2A-related disorders.
  • To explore the genotype-phenotype correlation in SCN2A dysfunction.
  • To discuss therapeutic strategies targeting sodium channel function.

Main Methods:

  • Analysis of gene discovery data for neurodevelopmental disorders.
  • Functional assays to correlate SCN2A genotype with observed phenotypes.
  • Review of scientific literature and collaborative efforts.

Main Results:

  • Strong correlation established between SCN2A genotype and clinical phenotype.
  • SCN2A dysfunction is a leading cause of infantile seizures, autism spectrum disorder, and intellectual disability.
  • Insights support the development of targeted therapies.

Conclusions:

  • Understanding SCN2A channel function is key to treating related neurodevelopmental disorders.
  • Therapeutic ligands enhancing or diminishing NaV1.2 function show promise for symptom improvement.
  • SCN2A serves as a model for neurodevelopmental disorder research.