Key result
Genetic analysis links a ~40-kilobase CACNA1A gene deletion to familial episodic ataxia type 2.
Case Report (n=3)
A large deletion of several exons in the CACNA1A gene can cause Episodic Ataxia Type 2, expanding the known mutational spectrum beyond point mutations.
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Supports considering CACNA1A deletion analysis in EA2; leaves open prevalence and diagnostic yield.
Riant et al. (2008) conducted a case report in Episodic ataxia type 2 (n=3). CACNA1A gene deletion was evaluated on Identification of CACNA1A mutations via genotyping, QMPSF, and sequencing. A 39.5-kilobase deletion removing the last 16 coding exons of the CACNA1A gene was identified as the cause of episodic ataxia type 2 in a family.
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