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 Experiment Videos

Epilepsies with single gene inheritance

S F Berkovic1, I E Scheffer

  • 1Department of Medicine (Neurology), University of Melbourne, Austin & Repatriation Medical Centre, Victoria, Australia. sberko@austin.unimelb.edu.au

Brain & Development
|January 1, 1997
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Generation of an iPSC line (FINi001-A) from a girl with developmental and epileptic encephalopathy due to a heterozygous gain-of-function p.R1882Q variant in the voltage-gated sodium channel Na<sub>v</sub>1.2 protein encoded by the SCN2A gene.

Stem cell research·2023
Same author

Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.

AJNR. American journal of neuroradiology·2022
Same author

Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.

European journal of medical genetics·2022
Same author

Bilateral volume reduction in posterior hippocampus in psychosis of epilepsy.

Journal of neurology, neurosurgery, and psychiatry·2019
Same author

A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy.

European journal of medical genetics·2015
Same author

Expression of the transmembrane lysosomal protein SCARB2/Limp-2 in renin secretory granules controls renin release.

Nephron. Experimental nephrology·2013
Same journal

Association of relative age with medical consultations for developmental concerns: A nationwide birth cohort study in Japan.

Brain & development·2026
Same journal

Extending the combined N-back/Nogo paradigm: Toward subtype-sensitive and translationally meaningful ERP research in ADHD.

Brain & development·2026
Same journal

Receptor-specific dopaminergic imbalance and sensory gating in Lesch-Nyhan syndrome.

Brain & development·2026
Same journal

From weather stations to the home environment: Refining seizure prediction in pediatric drug-resistant epilepsy.

Brain & development·2026
Same journal

Pediatric GBS-myelitis overlap syndrome: Severe phenotype, treatment response, and neurological outcomes.

Brain & development·2026
Same journal

Aspartoacylase (ASPA) gene mutations and neuroimaging features in Iranian patients with Canavan disease: a descriptive study.

Brain & development·2026
See all related articles

Single gene epilepsies, particularly idiopathic forms, are crucial for understanding epileptogenesis. Identifying specific gene defects, like in nocturnal frontal lobe epilepsy, advances genetic epilepsy research and clinical applications.

Area of Science:

  • Neurogenetics
  • Epileptology
  • Molecular Biology

Background:

  • Single gene disorders are key to identifying genetic linkage and abnormal genes.
  • Epilepsies are classified as symptomatic (with brain dysfunction) or idiopathic (seizures as primary symptom).
  • Over 200 rare, single gene symptomatic epilepsies exist, but gene identification hasn't fully clarified epileptogenesis due to associated brain disease.

Purpose of the Study:

  • To review advances in understanding single gene epilepsies.
  • To highlight the importance of idiopathic single gene epilepsies for genetic research.
  • To discuss the implications of gene discovery for epilepsy diagnosis and treatment.

Main Methods:

  • Review of literature on single gene epilepsies.

Related Experiment Videos

  • Analysis of genetic linkage studies in familial epilepsies.
  • Description of identified gene defects in specific epilepsy syndromes.

    • Main Results:

    • Genetic linkage found for benign familial neonatal convulsions (chromosomes 20q, 8q).
    • A genetic defect in the alpha 4 nicotinic acetylcholine receptor subunit identified in one family with autosomal dominant nocturnal frontal lobe epilepsy.
    • Linkage to chromosome 10q reported for familial temporal lobe epilepsy, but the genetic defect remains unknown.

    Conclusions:

    • Idiopathic single gene epilepsies are valuable models for understanding human epileptogenesis.
    • Discovery of epilepsy genes will improve clinical diagnosis, genetic counseling, and therapeutic strategies.
    • Further molecular genetic studies are expected to identify more epilepsy genes and advance the field.