Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2 ‐related disorders

PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity

(2018) Floriana Fruscione et al.   BRAIN

PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly

(2018) Jeff Coleman et al.   Cell Reports

Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D

(2017) Li-Xi Li et al.   HUMAN MUTATION

The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations

(2017) Caterina Michetti et al.   NEUROBIOLOGY OF DISEASE

Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients

(2016) Wu Zhi-Ying et al.   CHINESE MEDICAL JOURNAL

A Novel Topology of Proline-rich Transmembrane Protein 2 (PRRT2)

(2016) Pia Rossi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The evolving spectrum ofPRRT2-associated paroxysmal diseases

(2015) Darius Ebrahimi-Fakhari et al.   BRAIN

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling

(2015) Ming Li et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Severe phenotypic spectrum of biallelic mutations inPRRT2gene

(2015) Marion Delcourt et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Novel loss-of-function PRRT2mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family

(2014) Zhisong Ji et al.   BMC Neurology

Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome

(2014) L. M. Zhang et al.   JOURNAL OF CHILD NEUROLOGY

Genotype–phenotype correlation in a cohort of paroxysmal kinesigenic dyskinesia cases

(2014) Cheng-yuan Mao et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

A novel mutation and functional implications of 5 variants in the PRRT2 gene in 20 paroxysmal kinesigenic dyskinesia pedigrees

(2013) Xiang-Yi Jing et al.   PARKINSONISM & RELATED DISORDERS

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

(2012) Sarah E. Heron et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PRRT2c.649dupC Mutation Derived fromDe Novoin Paroxysmal Kinesigenic Dyskinesia

(2012) Hong-Fu Li et al.   CNS Neuroscience & Therapeutics

NovelPRRT2mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes

(2012) X.-R. Liu et al.   GENES BRAIN AND BEHAVIOR

Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance

(2012) J. Friedman et al.   NEUROLOGY

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine

(2012) C. Marini et al.   NEUROLOGY

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions

(2012) R. van Vliet et al.   NEUROLOGY

PRRT2 mutation causes benign familial infantile convulsions

(2012) B. de Vries et al.   NEUROLOGY

Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

(2012) Hsien-Yang Lee et al.   Cell Reports

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

(2011) J.-L. Wang et al.   BRAIN

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

(2011) Wan-Jin Chen et al.   NATURE GENETICS