id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
cord-013589-3l8kar3k	Doummar, Diane	Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia	2020-05-28		.txt	text/plain	4136	249	47	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 with cognitive impairment and interictal EEG abnormalities. The phenotype of the two oldest patients, aged 9 and 26, was characterized by childhood-onset refractory paroxysmal dyskinesia initially misdiagnosed as epilepsy due to interictal EEG abnormalities. Together with previously reported case, our three patients confirm that biallelic PDE2A variants are a cause of childhood-onset refractory paroxysmal dyskinesia with cognitive impairment, sometimes associated with choreodystonia and interictal baseline EEG abnormalities or epilepsy. reported a missense homozygous variant in PDE2A in a patient with cognitive impairment, interictal EEG abnormalities, and childhoodonset chorea [8] . indicate that biallelic variants in PDE2A leading to loss of function are involved in heterogeneous phenotypes characterized by early-onset paroxysmal hyperkinetic movement disorders associated with cognitive impairment and possibly epilepsy.	./cache/cord-013589-3l8kar3k.txt	./txt/cord-013589-3l8kar3k.txt