Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.H232fs
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PRRT2

NM_145239.3:p.H232fs

Associated Papers

Exploring epileptic phenotypes in PRRT2-related disorders: A report of two cases and literature appraisal.

Scorrano G et al.

Seizure, 2024

Genetic and phenotypic analyses of PRRT2 positive and negative paroxysmal kinesigenic dyskinesia.

Zhang Y et al.

Therapeutic Advances in Neurological Disorders, 2024

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

PRRT2 missense mutations cluster near C-terminus and frequently lead to protein mislocalization.

Tsai MH et al.

Epilepsia, 2019

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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."