Novel Variants in TMEM151A Identified in a Cohort of Patients with Paroxysmal Kinesigenic Dyskinesia

Abstract excerpt

<title>Abstract</title> <p> Methods We recruited 31 sporadic PKD patients and 10 familial pedigrees from the Departments of Neurology at Henan Provincial People’s Hospital between June 2023 and April 2025. Whole-exome sequencing (WES) was performed to identify pathogenic variants, followed by Sanger sequencing for validation and segregation analysis. In silico structural modeling and protein stability analyses...

Topics

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• Adolescent
• Child
• Chorea
• Dystonia
• Membrane Proteins
• Mutation
• Nerve Tissue Proteins
• Phenotype

Identifiers and source

Literature Corpus work

9e21ffe6-fb6c-58a0-b60b-5733de23c734

DOI

10.21203/rs.3.rs-9508449/v1