Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia
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DOI: 10.1038/s41431-020-0641-9
Abstract: Cause of complex dyskinesia remains elusive in some patients. A homozygous missense variant leading to drastic decrease of PDE2A enzymatic activity was reported in one patient with childhood-onset choreodystonia preceded by paroxysmal dyskinesia and associated… read more here.
Keywords: biallelic pde2a; cause; pde2a variants; paroxysmal dyskinesia ... See more keywords