Associated Papers
PRRT 2-Related Epilepsy: From Self-Limited Infantile Epilepsy to Atypical Epilepsy Phenotypes.
Komar M et al.
Neurology. Genetics, 2025
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
36918699 (PubMed )
Supplement: 41598_2023_31134_MOESM1_ESM.pdf
Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions.
Chen Y et al.
Frontiers of Medicine, 2021
The Genotype and Phenotype of Proline-Rich Transmembrane Protein 2 Associated Disorders in Chinese Children.
Luo HY et al.
Frontiers in Pediatrics, 2021
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
A PRRT2 variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction with STX1B.
Ma H et al.
Epilepsia, 2018
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