Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants

Figure 1

Clinical and genetic findings from proband with compound heterozygous CACNA2D2 variants. (a) Sagittal T1 weighted image from MRI demonstrating cerebellar volume loss (arrows). (b) Awake EEG showing spontaneous generalized 3 Hz spike and wave seizure activity with eye fluttering and low amplitude arm flinches. (c) Sanger sequencing traces showing CACNA2D2 variants inherited in a compound heterozygous fashion. Note: The CACNA2D2 gene is encoded by the minus strand of DNA. (d) Pedigree showing the inheritance pattern of the two variants. (e) Species protein alignment showing the evolutionary conservation of the two amino acid positions and prediction scores from in silico algorithms. D, deleterious; PrD, probably damaging; B, benign.

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