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

Fever, genes, and epilepsy.

Stéphanie Baulac1, Isabelle Gourfinkel-An, Rima Nabbout

  • 1Hôpital Pitié-Salpêtrière, Paris, France.

The Lancet. Neurology
|June 23, 2004
PubMed
Summary

Genetic factors link febrile seizures (FS) to epilepsy. Mutations in sodium channel and GABAA receptor genes are implicated in generalized epilepsy with febrile seizures plus (GEFS+) and temporal-lobe epilepsy (TLE).

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

Epilepsy and disability in adults with tuberous sclerosis complex: a 16-year retrospective analysis.

Journal of neurology·2026
Same author

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Nature genetics·2026
Same author

EEG, clinical, and MRI features of status epilepticus associated with mitochondrial diseases.

Journal of neurology·2026
Same author

Refractory focal epilepsy evolving into a Lennox-Gastaut syndrome-like.

Journal of neurology·2025
Same author

The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.

Brain : a journal of neurology·2025
Same author

SpikeSpector software for MultiElectrode Arrays: Field potential analysis and spatial integration of electrophysiological and histological data.

Journal of neuroscience methods·2025

Area of Science:

  • Neurology
  • Genetics
  • Epilepsy Research

Background:

  • Approximately 13% of epilepsy patients have a history of febrile seizures (FS).
  • Familial studies suggest a genetic basis for the link between FS and epilepsy.
  • Certain monogenic forms of FS increase epilepsy risk.

Purpose of the Study:

  • To explore the genetic underpinnings connecting febrile seizures (FS) and various epilepsy syndromes.
  • To investigate genetic mutations in voltage-gated sodium channels and GABAA receptors in relation to FS and epilepsy.

Main Methods:

  • Review of genetic studies on familial forms of FS and epilepsy.
  • Analysis of mutations in voltage-gated sodium channel and GABAA receptor genes.
  • Screening of specific genes in patients with severe myoclonic epilepsy in infancy and temporal-lobe epilepsy (TLE).

Related Experiment Videos

Main Results:

  • Mutations in voltage-gated sodium channel and GABAA receptor genes are associated with generalized epilepsy with febrile seizures plus (GEFS+).
  • De novo mutations in the alpha1 subunit of the voltage-gated sodium channel were found in patients with severe myoclonic epilepsy in infancy.
  • Genetic association studies suggest susceptibility genes for mesial TLE and a potential common genetic basis for FS and TLE.

Conclusions:

  • Molecular defects in identified genes provide insights into epileptogenesis.
  • Understanding these genetic links aids in comprehending susceptibility to seizure triggers like fever.
  • Genetic research is crucial for unraveling the complex relationship between febrile seizures and epilepsy.