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

Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

1.1K
Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
1.1K
Seizures: Classification01:13

Seizures: Classification

1.2K
Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
1.2K
Pleiotropy01:33

Pleiotropy

43.1K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.1K
Biological Causes of Schizophrenia01:29

Biological Causes of Schizophrenia

435
Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
435
Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein01:20

Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein

752
Antiepileptic drugs, such as levetiracetam (Keppra) and brivaracetam (Briviact), have emerged as crucial tools in managing epilepsy. These medications exert their therapeutic effects by targeting the synaptic vesicle protein SV2A, a transmembrane glycoprotein primarily found in the brain.
SV2A is a transmembrane glycoprotein located predominantly in the brain, modulating the release of neurotransmitters for neuronal communication. Both levetiracetam and brivaracetam exhibit a high affinity for...
752
Antiepileptic Drugs: Sodium Channel Blockers01:08

Antiepileptic Drugs: Sodium Channel Blockers

1.5K
Antiepileptic drugs are specialized medications that prevent seizures in individuals diagnosed with epilepsy. These drugs primarily function by blocking the movement of sodium ions through channels in the neuronal membrane, inhibiting the repetitive firing of action potentials often associated with seizures.
Sodium channel blockers modulate ion channels, particularly voltage-gated sodium channels. They block only sodium ion movement.
Among the most commonly prescribed antiepileptic drugs are...
1.5K

You might also read

Related Articles

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

Sort by
Same author

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.

medRxiv : the preprint server for health sciences·2023
Same author

Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies.

Neurology·2023
Same author

Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

Genes·2023
Same author

Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.

Annals of neurology·2023
Same author

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.

The Lancet. Neurology·2023
Same author

Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trial.

Epilepsia·2023

Related Experiment Video

Updated: Dec 31, 2025

A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy
06:58

A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy

Published on: July 12, 2021

5.5K

SCN1A-related phenotypes: Epilepsy and beyond.

Ingrid E Scheffer1, Rima Nabbout2

  • 1Departments of Medicine and Paediatrics, Austin Health and Royal Children's Hospital, Florey and Murdoch Children's Research Institute, The University of Melbourne, Melbourne, VIC, Australia.

Epilepsia
|January 7, 2020
PubMed
Summary

Mutations in the SCN1A gene cause a spectrum of neurological disorders, including severe epilepsies like Dravet syndrome and conditions such as hemiplegic migraine and autism spectrum disorder.

Keywords:
Dravet syndromeSUDEP patient-centered outcomesautism spectrum disorderhemiplegic migraine

More Related Videos

Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy
08:26

Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy

Published on: October 19, 2021

6.1K
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

1.2K

Related Experiment Videos

Last Updated: Dec 31, 2025

A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy
06:58

A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy

Published on: July 12, 2021

5.5K
Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy
08:26

Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy

Published on: October 19, 2021

6.1K
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

1.2K

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • The SCN1A gene encodes the alpha 1 subunit of the sodium channel, crucial for neuronal function.
  • SCN1A-related disorders encompass a wide phenotypic spectrum, including genetic epilepsy with febrile seizures plus (GEFS+), developmental and epileptic encephalopathies (DEEs), hemiplegic migraine (HM), and autism spectrum disorder (ASD).
  • Dravet syndrome (DS) is a prototypic DEE characterized by early-onset severe epilepsy, cognitive impairment, and drug-resistant seizures.

Purpose of the Study:

  • To provide a comprehensive overview of SCN1A-related channelopathies.
  • To elucidate the genotype-phenotype correlations in SCN1A disorders.
  • To discuss the molecular mechanisms underlying SCN1A-associated epilepsy, migraine, and ASD.

Main Methods:

  • Review of genetic studies and clinical case reports.
  • Analysis of molecular findings, including loss-of-function and gain-of-function mechanisms.
  • Examination of cellular and animal models of SCN1A mutations.

Main Results:

  • SCN1A mutations are associated with a broad range of epilepsy syndromes, with haploinsufficiency (loss-of-function) being a common mechanism in DEEs like DS.
  • Missense mutations in SCN1A linked to sporadic/familial HM often result in a gain-of-function mechanism.
  • SCN1A and SCN2A variants are implicated in ASD, and ASD features are frequently observed in patients with DS and other DEEs.

Conclusions:

  • SCN1A is a critical gene for neurological function, and its dysfunction leads to diverse and severe clinical manifestations.
  • Understanding the distinct molecular mechanisms (loss-of-function vs. gain-of-function) associated with different SCN1A mutations is essential for targeted therapies.
  • The significant overlap in clinical features and genetic underpinnings between SCN1A disorders, epilepsy, migraine, and ASD highlights the complex interplay of ion channel function in the brain.