Associated Papers
Computational insights into PKCθ non-synonymous SNPs: from structural changes to functional implications.
Hafeez A et al.
Journal of Biomolecular Structure & Dynamics, 2025
40847819 (PubMed )
Supplement: supplement_1.zip › supplementary_file_S_table_S3.xlsx › Cosmic_nsSNPs
Exploring epileptic phenotypes in PRRT2-related disorders: A report of two cases and literature appraisal.
Scorrano G et al.
Seizure, 2024
A novel domain within the CIL regulates egress of IFITM3 from the Golgi and reveals a regulatory role of IFITM3 on the secretory pathway.
Zhong L et al.
Life Science Alliance, 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
Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.
Zhao SY et al.
Cns Neuroscience & Therapeutics, 2020
PRRT2 missense mutations cluster near C-terminus and frequently lead to protein mislocalization.
Tsai MH et al.
Epilepsia, 2019
PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures.
Zhao G et al.
The International Journal of Neuroscience, 2018
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
Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.
Liu XR et al.
Genes, Brain, and Behavior, 2013
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.
Heron SE et al.
Journal of Medical Genetics, 2013
A Novel Truncation Mutation of the PRRT2 Gene Resulting in a 16-Amino-Acid Protein Causes Self-inducible Paroxysmal Kinesigenic Dyskinesia.
Kita M et al.
Movement Disorders Clinical Practice, 0
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