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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.