Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.D302insFs
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PRRT2

NM_145239.3:p.D302insFs

Associated Papers

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

Scorrano G et al.

Seizure, 2024

Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases.

Liu M et al.

Frontiers in Pediatrics, 2022

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

[Phenotypes and PRRT2 mutation analysis in families with benign familial infantile epilepsy].

Yang X et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014

Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.

Yang X et al.

Bmc Neurology, 2013

PRRT2 mutations and paroxysmal disorders.

Méneret A et al.

European Journal of Neurology, 2013

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

Liu Q et al.

Journal of Medical Genetics, 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."