Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.S208Y
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PRRT2

NM_145239.3:p.S208Y

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

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

Liu M et al.

Frontiers in Pediatrics, 2022

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

PRRT2 mutations are related to febrile seizures in epileptic patients.

He ZW et al.

International Journal of Molecular Sciences, 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."