Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.E193insFs
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PRRT2

NM_145239.3:p.E193insFs

Associated Papers

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

Scorrano G et al.

Seizure, 2024

Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.

Zou H et al.

Frontiers in Genetics, 2024

39906551 (PubMed )
Supplement: Table1.xlsx › Table_S2

PRRT2 gene mutations associated with infantile convulsions induced by sucking and the genotype-phenotype correlation.

Liu DT et al.

Frontiers in Neurology, 2022

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

Liu M et al.

Frontiers in Pediatrics, 2022

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

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

The evolving spectrum of PRRT2-associated paroxysmal diseases.

Ebrahimi-Fakhari D et al.

Brain : a Journal of Neurology, 2015

Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.

Liu XR et al.

Genes, Brain, and Behavior, 2013

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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."