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Article

Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions.

Frontiers of medicine - 1 Dec 2021

Chen Yulan, Chen Dianfu, Zhao Shaoyun, Liu Gonglu, Li Hongfu, Wu Zhi-Ying

Abstract excerpt

Proline-rich transmembrane protein 2 (PRRT2) is the leading cause of paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), and infantile convulsions with choreoathetosis (ICCA). Reduced penetrance of PRRT2 has been observed in previous studies, whereas the exact penetrance has not been evaluated well. The objective of this study was to estimate the penetrance of PRRT2 and determine...

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PMID: 34825340
DOI: 10.1007/s11684-021-0863-4

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