Protein expression of CACNA2D2 showing virtual absence of expression in the proband (II:1) and ~50% reduction in the parents (I:1 and I:2). The MRI of the proband showed marked cerebellar atrophy. CACNA2D2 is highly expressed in cerebellar Purkinje cells. Image modified from Pippuci and collaborators under a Creative Commons licence (

Ingo Helbig

Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany

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