Associated Papers
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 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
Activity-dependent cleavage of dyskinesia-related proline-rich transmembrane protein 2 (PRRT2) by calpain in mouse primary cortical neurons.
Hatta D et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
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
PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly.
Coleman J et al.
Cell Reports, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
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
The evolving spectrum of PRRT2-associated paroxysmal diseases.
Ebrahimi-Fakhari D et al.
Brain : a Journal of Neurology, 2015
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Gardiner AR et al.
Brain : a Journal of Neurology, 2015
Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.
Huguet G et al.
Plos One, 2014
Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies.
Heron SE et al.
Epilepsia, 2013
Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.
Silveira-Moriyama L et al.
Developmental Medicine and Child Neurology, 2013
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
Gardiner AR et al.
Neurology, 2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
Heron SE et al.
American Journal of Human Genetics, 2012
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