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Article

Heterozygous KCNJ10 variants affecting Kir4.1 channel cause paroxysmal kinesigenic dyskinesia

2023-09-01

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> Paroxysmal kinesigenic dyskinesia is the representative form of paroxysmal dyskinesia, and its mechanism is unclear. Although paroxysmal kinesigenic dyskinesia is mostly attributed to genetic factors, more than 60% of paroxysmal kinesigenic dyskinesia cases are of uncertain mutations. We searched for novel genetic causes of paroxysmal kinesigenic dyskinesia and e...

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Literature Corpus work
5404e9d6-944a-5311-a4e2-3f5b1901931a
DOI
10.21203/rs.3.rs-3292429/v1
Open publication

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Heterozygous KCNJ10 variants affecting Kir4.1 channel cause paroxysmal kinesigenic dyskinesiaDOI 10.21203/rs.3.rs-3292429/v1
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