CACNA1A and episodic ataxia type 2: Furthermore, missense variants leading to decreased channel currents have been described3, 4, 12, 13 and over the past years deletions in CACNA1A have been reported in EA2 patients using quantitative approaches, such as Multiplex Ligation dependent Probe Amplification (MLPA)14, 15 or Quantitative Multiplex PCR of Short fluorescent Fragments (QMPSF)16.