Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.E102D
Back to variants list

PRRT2

NM_145239.3:p.E102D

Associated Papers

Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions.

Chen Y et al.

Frontiers of 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

Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.

Zhao SY et al.

Cns Neuroscience & Therapeutics, 2020

PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures.

Zhao G et al.

The International Journal of Neuroscience, 2018

Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures.

Zheng W et al.

Molecular Neurobiology, 2016

PRRT2 mutations and paroxysmal disorders.

Méneret A et al.

European Journal of Neurology, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."