Referenced in: none

Automatically associated channels: Cav2.1

Title: Nonconsensus intronic mutations cause episodic ataxia.

Authors: Jijun Wan, Janai R Carr, Robert W Baloh, Joanna C Jen

Journal, date & volume: Ann. Neurol., 2005 Jan , 57, 131-5

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/15622542

Abstract
We discovered intronic mutations in two episodic ataxia type 2 (EA2) families: a four-nucleotide GAGT deletion at IVS41+(3-6) and a single nucleotide insertion (insT) at IVS24+3. We expressed minigenes harboring the mutations in cell lines to demonstrate exon skipping from the deletion mutation and the activation of a cryptic splice donor site from the insertion mutation. The identification of these disease-causing mutations expands the spectrum of EA2 mutations and emphasizes the importance of intronic sequences in regulating gene expression.