Disease: Paroxysmal kinesigenic choreoathetosis
- <em>PRRT2</em> mutation in a Japanese woman: Adult-onset focal epilepsy coexisting with movement disorders and cerebellar atrophy
- 16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability
- A case of a pathological variant of the PRRT2 gene in twins with paroxysmal kinesiogenic dyskinesia
- A case of paroxysmal kinesigenic dyskinesia suspected to be reflex epilepsy
- A common PRRT2 mutation in familial paroxysmal kinesigenic dyskinesia in Hong Kong: a case series of 16 patients
- A heterozygous deletion of PDGFB gene causes paroxysmal kinesigenic dyskinesia with primary familial brain calcification
- A Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia - A comprehensive mutational analysis
- A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome
- A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high-throughput detection of PRRT2 gene c.649 locus
- A novel <em>PRRT2</em> pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures
- A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion
- A novel SLC20A2 mutation presenting with paroxysmal kinesigenic dyskinesia and epilepsy in a Chinese patient: a case report
- A PRRT2 variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction with STX1B
- Aberrant transcriptional networks in step-wise neurogenesis of paroxysmal kinesigenic dyskinesia-induced pluripotent stem cells
- Abnormal Somatosensory Synchronization in Patients With Paroxysmal Kinesigenic Dyskinesia: A Magnetoencephalographic Study
- Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases
- Altered topological organization of functional brain networks in drug-naive patients with paroxysmal kinesigenic dyskinesia
- An adult female with proline-rich transmembrane protein 2 related paroxysmal disorders manifesting paroxysmal kinesigenic choreoathetosis and epileptic seizures
- An Electroencephalography Profile of Paroxysmal Kinesigenic Dyskinesia
- An emerging spectrum of variants and clinical features in <em>KCNMA1</em>-linked channelopathy
- Associations between neuroanatomical abnormality and motor symptoms in paroxysmal kinesigenic dyskinesia
- Biallelic XPR1 mutation associated with primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia with infantile convulsions
- Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia
- Brain structural connectome in relation to PRRT2 mutations in paroxysmal kinesigenic dyskinesia
- Cerebellar spreading depolarization mediates paroxysmal movement disorder
- Cerebello-thalamofrontal dysconnectivity in paroxysmal kinesigenic dyskinesia: A resting-state fMRI study
- Characteristics of infantile convulsions and choreoathetosis syndrome caused by <em>PRRT2</em> mutation
- CHRNA4 variant causes paroxysmal kinesigenic dyskinesia and genetic epilepsy with febrile seizures plus?
- Clinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia
- Clinical characteristics and PRRT2 gene mutation analysis of sporadic patients with paroxysmal kinesigenic dyskinesia in China
- Clinical commentary on "Paroxysmal kinesigenic dyskinesia-like phenotype in multiple sclerosis" and "Secondary paroxysmal dyskinesia in multiple sclerosis: Clinical-radiological features and treatment. Case report of seven patients"
- Clinical features of patients with paroxysmal kinesigenic dyskinesia, mutation screening of PRRT2 and the effects of morning draughts of oxcarbazepine
- Clinical manifestations and genetic diagnosis of paroxysmal kinesigenic dyskinesia
- Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients
- De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia
- Depression, anxiety, and quality of life in paroxysmal kinesigenic dyskinesia patients
- Different experiences of two PRRT2-associated self-limited familial infantile epilepsy
- Disruption of gray matter morphological networks in patients with paroxysmal kinesigenic dyskinesia
- Effects of PRRT2 mutation on brain gray matter networks in paroxysmal kinesigenic dyskinesia
- Exercise test for patients with new-onset paroxysmal kinesigenic dyskinesia
- Exome-Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm TMEM151A as a Novel Causative Gene
- Falling After Starting Running in a Case of Myoclonus Epilepsy Associated with Ragged-red Fibers with a 8344A>G mtDNA Mutation
- Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene
- Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEA
- Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants
- Generation of an induced pluripotent stem cell line (ZZUi022-A) from a paroxysmal kinesigenic dyskinesia individual carrying the PRRT2 gene mutation
- Haploinsufficiency of PRRT2 Leading to Familial Hemiplegic Migraine in Chromosome 16p11.2 Deletion Syndrome
- Identification of two novel PRRT2 gene variants in two children with paroxysmal kinesigenic dyskinesia
- Increased responsiveness at the cerebellar input stage in the PRRT2 knockout model of paroxysmal kinesigenic dyskinesia
- Lacosamide for children with paroxysmal kinesigenic dyskinesia
- Neural Mechanisms of Paroxysmal Kinesigenic Dyskinesia: Insights from Neuroimaging
- Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy
- Novel missense variant in the TMEM151A gene causing paroxysmal kinesigenic dyskinesia: a case report with literature review
- Paroxysmal Genetic Movement Disorders and Epilepsy
- Paroxysmal Kinesigenic Dyskinesia
- Paroxysmal Kinesigenic Dyskinesia
- Paroxysmal Kinesigenic Dyskinesia
- Paroxysmal kinesigenic dyskinesia associated with a novel POLG variant: A case report
- Paroxysmal Kinesigenic Dyskinesia Masquerading as Dissociative Disorder: A Case Report on Pseudo-Dissociation
- Paroxysmal Kinesigenic Dyskinesia Secondary to Brain Calcification with a Homozygous MYORG Mutation
- Paroxysmal Kinesigenic Dyskinesia Secondary to Brain Calcification with a Homozygous MYORG Mutation
- Paroxysmal Kinesigenic Dyskinesia Symptoms Markedly Reduced with Parenteral Vitamins and Minerals: A Case Report
- Paroxysmal kinesigenic dyskinesia: a diagnostic challenge
- Paroxysmal kinesigenic dyskinesia: A frequently misdiagnosed movement disorder
- Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa
- Paroxysmal Kinesigenic Dyskinesia: Genetics and Pathophysiological Mechanisms
- Paroxysmal Non-Kinesigenic Choreoathetosis Case Report and a Review of the Pathogenesis
- Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions
- Peri-ictal EEG in infants with PRRT2-related self-limited infantile epilepsy
- Presynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia
- Primary brain calcification due to a homozygous MYORG mutation causing isolated paroxysmal kinesigenic dyskinesia
- Primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia: Genetic and functional analyses
- Proline-rich transmembrane protein 2 knock-in mice present dopamine-dependent motor deficits
- Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients
- PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by influencing synaptic function in the primary motor cortex of rats
- PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum
- PRRT2 frameshift mutation reduces its mRNA stability resulting loss of function in paroxysmal kinesigenic dyskinesia
- PRRT2 missense mutations cluster near C-terminus and frequently lead to protein mislocalization
- PRRT2 mutation and infantile convulsions
- PRRT2 Mutation and Serum Cytokines in Paroxysmal Kinesigenic Dyskinesia
- PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures
- PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia
- PRRT2-dependent dyskinesia: cerebellar, paroxysmal and persistent
- Psychogenic seizures in a child with infantile convulsions and choreoathetosis
- Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia
- Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China
- Reply: Primary brain calcification due to a homozygous MYORG mutation causing isolated paroxysmal kinesigenic dyskinesia
- Secondary Paroxysmal Kinesigenic Dyskinesia with a CASR Mutation
- Thalamocortical dysconnectivity in paroxysmal kinesigenic dyskinesia: Combining functional magnetic resonance imaging and diffusion tensor imaging
- The Genotype and Phenotype of Proline-Rich Transmembrane Protein 2 Associated Disorders in Chinese Children
- The Pathogenesis of Paroxysmal Kinesigenic Dyskinesia: Current Concepts
- The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China
- The study of exercise tests in paroxysmal kinesigenic dyskinesia
- TMEM151A as an alternative to PRRT2 in paroxysmal kinesigenic dyskinesia: About three new cases
- TMEM151A phenotypic spectrum includes paroxysmal kinesigenic dyskinesia with infantile convulsions
- TMEM151A variants associated with paroxysmal kinesigenic dyskinesia
- TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large-Sample Study
- Transcallosal conduction in paroxysmal kinesigenic dyskinesia
- Treatment of Paroxysmal Dyskinesia
- Zonisamide Therapy for Patients With Paroxysmal Kinesigenic Dyskinesia