CACNA1A and episodic ataxia type 2: Direct sequencing of CACNA1A in some patients with EA2 does not identify any point mutation, but the use of methods such as MLPA (multiplex ligation-dependent probe amplification) and QMPSF (quantitative multiplex PCR of short fluorescent fragments) has demonstrated large-scale CACNA1A gene rearrangements (deletions and duplications) in patients with EA2 [19,20].