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

Nonconsensus intronic mutations cause episodic ataxia.

Jijun Wan1, Janai R Carr, Robert W Baloh

  • 1Department of Neurology, University of California at Los Angeles, 710 Westwood Plaza, Los Angeles, CA 90095-1769, USA.

Annals of Neurology
|December 29, 2004
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

ENPP1 blockade with a humanized monoclonal antibody enhances renal repair after acute kidney injury.

Cell stem cell·2026
Same author

In vivo characterization of a patient CACNA1A variant reveals paradoxical synaptic effects.

bioRxiv : the preprint server for biology·2026
Same author

The curious case of a heterozygous loss-of-function <i>PSEN1</i> variant associated with early-onset Alzheimer's disease.

Molecular neurodegeneration advances·2025
Same author

The Curious Case of a Heterozygous Loss-of-Function PSEN1 variant associated with Early-Onset Alzheimer's Disease.

Research square·2025
Same author

Rizatriptan vs Placebo for Attacks of Vestibular Migraine: A Randomized Clinical Trial.

JAMA neurology·2025
Same author

A humanized monoclonal antibody targeting an ectonucleotidase rescues cardiac metabolism and heart function after myocardial infarction.

Cell reports. Medicine·2024

We identified novel intronic mutations causing episodic ataxia type 2 (EA2). These mutations disrupt normal gene splicing, highlighting the critical role of intronic sequences in EA2 pathogenesis.

Area of Science:

  • Genetics
  • Molecular Biology
  • Neuroscience

Background:

  • Episodic ataxia type 2 (EA2) is a rare neurological disorder.
  • EA2 is primarily caused by mutations in the CACNA1A gene.
  • The full spectrum of mutations, including intronic variants, is not completely understood.

Purpose of the Study:

  • To identify and characterize novel disease-causing mutations in EA2.
  • To investigate the functional impact of identified intronic mutations on gene splicing.
  • To expand the known mutation spectrum for EA2.

Main Methods:

  • Genetic analysis of two EA2 families.
  • Minigene expression assays in cell lines.
  • Splicing analysis to detect exon skipping and cryptic splice site activation.

Related Experiment Videos

Main Results:

  • Discovery of two distinct intronic mutations in EA2 families: a GAGT deletion at IVS41+(3-6) and an insT insertion at IVS24+3.
  • Demonstration of exon skipping caused by the deletion mutation.
  • Evidence of cryptic splice donor site activation due to the insertion mutation.

Conclusions:

  • These intronic mutations are pathogenic and contribute to EA2.
  • The findings broaden the understanding of EA2 genetic causes.
  • Intronic sequences play a crucial role in regulating gene expression relevant to EA2.