Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.A214Fs
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PRRT2

NM_145239.3:p.A214Fs

Associated Papers

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

Scorrano G et al.

Seizure, 2024

Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura.

Bjornsdottir G et al.

Nature Genetics, 2023

PRRT2-positive self-limited infantile epilepsy: Initial seizure characteristics and response to sodium channel blockers.

Lee J et al.

Epilepsia Open, 2023

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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."