Associated Papers
A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.
Yousaf H et al.
Clinical Genetics, 2023
Genetic updates on paroxysmal dyskinesias.
Liao JY et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.
Doummar D et al.
European Journal of Human Genetics : Ejhg, 2020
ADCY5-Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder.
Vijiaratnam N et al.
Movement Disorders Clinical Practice, 2019
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
Salpietro V et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2018
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