Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.R227*
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PRRT2

NM_145239.3:p.R227*

Associated Papers

Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self-limited infantile epilepsy by trios whole-exome sequencing.

Sun Y et al.

Epilepsia Open, 2025

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

Scorrano G et al.

Seizure, 2024

Clinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia.

Liu X et al.

Journal of Neurology, 2022

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

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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."