ArticleCNS neuroscience & therapeutics2020
Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.
Article in CNS neuroscience & therapeutics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- Genotypic and phenotypic spectrum of PRRT2-related variations: clinical analysis and treatment response in fourteen unrelated Chinese patients.BMC medical genomics · 2026Article
- Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients WithHuman mutation · 2026Article
- Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2-Related Disorders.Annals of clinical and translational neurology · 2025Article
- Paroxysmal Kinesigenic Dyskinesia: Genetics and Pathophysiological Mechanisms.Neuroscience bulletin · 2024Review
- Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura.Nature genetics · 2023Article
- Clinical and genetic analysis of benign familial infantile epilepsy caused byFrontiers in neurology · 2023Article
- Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases.Frontiers in pediatrics · 2022Article
- Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions.Frontiers of medicine · 2021Article
- Genetic updates on paroxysmal dyskinesias.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy.Brain and behavior · 2020Article
- Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.CNS neuroscience & therapeutics · 2020Article
- Proteomics-based screening of the target proteins associated with antidepressant-like effect and mechanism of Saikosaponin A.Journal of cellular and molecular medicine · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsPRRT2 variants are associated with various paroxysmal disorders. To date, more than 90 PRRT2 variants have been reported in PRRT2-related disorders. Lack of functional study in majority of missense variants makes their pathogenicity uncertain. We aim to evaluate the clinical significance of PRRT2 missense variants by performing in vitro experiments.
methodsWe systematically reviewed PRRT2-related disorders and summarized reported PRRT2 missense variants. Protein expression and subcellular localization of mutant PRRT2 were investigated in mammal cells. American College of Medical Genetics and Genomics (ACMG) guidelines were used to analyze the pathogenicity of PRRT2 missense variants.
resultsA total of 29 PRRT2 missense variants were identified in PRRT2-related disorders. Ten variants were observed to affect both subcellular localization and protein level, three variants only affect membrane localization, and two variants only affect protein level. According to ACMG guidelines, 15 variants were finally classified as "likely pathogenic", three as "benign", three as "likely benign", and eight as "uncertain significance" variants. The likely pathogenic variants were concentrated in the C-terminal of PRRT2.
conclusionsThe pathogenicity of eight uncertain significance variants needs further investigation. C-terminal of PRRT2 is crucial for its physiological function.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.