Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.V109fs
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PRRT2

NM_145239.3:p.V109fs

Associated Papers

Gray matter structural alterations of cortico-striato-thalamo-cortical loop in familial Paroxysmal Kinesigenic Dyskinesia.

Wang D et al.

Heliyon, 2024

Evaluation of iron deposition in the motor CSTC loop of a Chinese family with paroxysmal kinesigenic dyskinesia using quantitative susceptibility mapping.

Xie F et al.

Frontiers in Neurology, 2023

Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families.

He J et al.

Experimental and Therapeutic Medicine, 2021

The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.

Huang XJ et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

Re-evaluation of PRRT2 mutations in paroxysmal disorders.

Guo XN et al.

Journal of Neurology, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."