Associated Papers
Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2-Related Disorders.
Xu JJ et al.
Annals of Clinical and Translational Neurology, 2025
Exploring epileptic phenotypes in PRRT2-related disorders: A report of two cases and literature appraisal.
Scorrano G et al.
Seizure, 2024
Genetic and phenotypic analyses of PRRT2 positive and negative paroxysmal kinesigenic dyskinesia.
Zhang Y et al.
Therapeutic Advances in Neurological Disorders, 2024
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
PRRT2 mutations and paroxysmal disorders.
Méneret A et al.
European Journal of Neurology, 2013
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.
Heron SE et al.
Journal of Medical Genetics, 2013
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
Heron SE et al.
American Journal of Human Genetics, 2012
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