Article

TMEM151A Variants Associated with Paroxysmal Kinesigenic Dyskinesia

2022-12-21

Abstract excerpt

<title>Abstract</title> <p><italic>TMEM151A</italic>, located at 11q13.2 and encoding transmembrane protein 151A, was recently reported as causative for autosomal dominant paroxysmal kinesigenic dyskinesia (PKD). Here, through comprehensive analysis of sporadic and familial cases, we expand the clinical and mutation spectrum of PKD. In doing so, we clarify the clinical and genetic features of Chinese PKD patients...

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Literature Corpus work: 98cc77ed-ea8b-5615-bc25-485d4447330e
DOI: 10.21203/rs.3.rs-2390835/v1

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