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Journal Article 1

Year

2021 1

Keywords

PRRT2 1

infantile convulsions 1

paroxysmal kinesigenic dyskinesia 1

penetrance 1

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Penetrance estimation of variants in paroxysmal kinesigenic dyskinesia and infantile convulsions

Frontiers of Medicine 2021, Volume 15, Issue 6,   Pages 877-886 doi: 10.1007/s11684-021-0863-4

Abstract: Reduced penetrance of PRRT2 has been observed in previous studies, whereas the exact penetranceThe objective of this study was to estimate the penetrance of PRRT2 and determine its influencingPenetrance was estimated as the proportion of affected variant carriers.PRRT2 penetrance estimate was 77.6% (95% confidence interval (CI) 74.5%–80.7%) in relatives andIn addition, we first observed that penetrance was higher in truncated than in non-truncated variants

Keywords： penetrance     PRRT2     paroxysmal kinesigenic dyskinesia     infantile convulsions    

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Penetrance estimation of variants in paroxysmal kinesigenic dyskinesia and infantile convulsions

Journal Article