Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.D302fs
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PRRT2

NM_145239.3:p.D302fs

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

Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.

Zeng Q et al.

Journal of Human Genetics, 2018

Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.

Silveira-Moriyama L et al.

Developmental Medicine and Child Neurology, 2013

Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.

Heron SE et al.

Journal of Medical Genetics, 2013

Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.

Liu Q et al.

Journal of Medical Genetics, 2012

PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort.

Lee YC et al.

Plos One, 2012

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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."