A discinesia cinesigênica paroxística (PKD) é uma forma de discinesia paroxística, caracterizada por hipercinesias involuntárias breves e recorrentes, como coreoatetose, balismo, atetose ou distonia, desencadeadas por movimentos bruscos.
Introdução
O que você precisa saber de cara
A discinesia cinesigênica paroxística (PKD) é uma forma de discinesia paroxística, caracterizada por hipercinesias involuntárias breves e recorrentes, como coreoatetose, balismo, atetose ou distonia, desencadeadas por movimentos bruscos.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 8 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 16 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
4 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.
As a component of the outer core of AMPAR complex, may be involved in synaptic transmission in the central nervous system. In hippocampal neurons, in presynaptic terminals, plays an important role in the final steps of neurotransmitter release, possibly by regulating Ca(2+)-sensing. In the cerebellum, may inhibit SNARE complex formation and down-regulate short-term facilitation
Cell membranePresynaptic cell membraneSynapseCell projection, axonCytoplasmic vesicle, secretory vesicle, synaptic vesicle membranePostsynaptic density membraneCell projection, dendritic spine
Episodic kinesigenic dyskinesia 1
An autosomal dominant form of paroxysmal kinesigenic dyskinesia, a neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis.
May be responsible for potassium buffering action of glial cells in the brain (By similarity). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it (PubMed:8995301). Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages (PubMed:8995301). The inward rectification is mainly d
MembraneBasolateral cell membrane
Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance
A complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia.
Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the kidney (PubMed:19903818, PubMed:8845167). Contributes to the regulation of the membrane potential and nerve signaling, and prevents neuronal hyperexcitability (PubMed:17156368). Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alte
Cell membraneMembraneCell projection, axonCytoplasmic vesiclePerikaryonEndoplasmic reticulumCell projection, dendriteCell junctionSynapsePresynaptic cell membranePresynapse
Episodic ataxia 1
An autosomal dominant disorder characterized by brief episodes of ataxia and dysarthria. Neurological examination during and between the attacks demonstrates spontaneous, repetitive discharges in the distal musculature (myokymia) that arise from peripheral nerve. Nystagmus is absent.
Endoplasmic reticulum membraneCell projection, axonCell projection, dendrite
Episodic kinesigenic dyskinesia 3
A form of paroxysmal kinesigenic dyskinesia, a neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements. These attacks can involve dystonic postures, chorea, or athetosis. EKD3 is an autosomal dominant form with incomplete penetrance and onset in late childhood or early adolescence. Symptoms are usually triggered by sudden movement or stress, and resolve in most patients in their early twenties or later.
Variantes genéticas (ClinVar)
294 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
4 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Discinesia paroxística cinesigênica
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
Publicações mais relevantes
A Case of Atypical Presentation of Paroxysmal Movement Disorder, Contributed to PRRT2 Gene Variant.
The PRRT2 gene located at 16p11 encodes proline-rich transmembrane protein with the heterozygous PRRT2 mutation being commonly reported. The most common variant found was the c.649dup.(Arg217Profs*8). Various case reviews documenting pathogenic PRRT2 variants reported an association with paroxysmal movement disorders, including paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy, paroxysmal kinesigenic dyskinesia associated with infantile convulsions (PKD/IC), also known as infantile convulsions with choreoathetosis syndrome paroxysmal non-kinesigenic dyskinesia (PNKD), hemiplegic migraine, and exercise-induced dyskinesia. However, more recent reports have also documented mutation associated with a broader clinical picture presenting with congenital microcephaly, severe learning difficulties, and pharmacoresistant encephalopathy. We hereby report a patient who presented with paroxysmal dyskinesia, harbouring the mutation variant on PRRT2 gene. At 5 months of age, our proband presented to emergency because of jerking movements while in a moving car. This was followed by generalized tonic-clonic seizures and kinesigenic posturing. The latter would occur tens of times per day and a specific trigger did not always prevail. The movements responded well to low-dose carbamazepine and genetic studies confirmed a mutated variant of c.649dup.(Arg217Profs*8).
Heterozygous Loss-of-Function Variants of KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia.
Heterozygous variants of potassium inwardly rectifying channel subfamily J member 10 (KCNJ10) were previously reported to be enriched in several patients with paroxysmal kinesigenic dyskinesia (PKD). The aim was to confirm the pathogenesis of KCNJ10 variants and the relationship between KCNJ10 variants and PKD phenotypes. The whole-exome sequencing followed by Sanger sequencing were used to screen the potential pathogenic KCNJ10 variants in a cohort of PKD patients. Functional studies were performed to check the pathogenicity of the variants. The clinical characteristics of KCNJ10-related PKD patients reported to date were reviewed. Five heterozygous KCNJ10 variants including c.76C>T (p.R26*), c.436C>T (p.L146F), c.484A>G (p.T162A), c.524G>A (p.R175Q), and c.923del (p.G308Afs*17), were detected in five pedigrees and three sporadic patients. All variants had extremely low frequency in normal populations and were highly conserved between species. They influenced the location or expression of potassium inwardly rectifying channel (Kir) 4.1 and resulted in the Kir currents of cell decreased to varied degrees. Up to date, 31 KCNJ10 variants had been reported to manifest as PKD, and a significant majority (22/31, 71%) were in the cytoplasmic domain near the C-terminus. Notably, the KCNJ10-related PKD patients showed a pronounced male predominance. The study confirmed the correlation between PKD and the loss-of-function of Kir4.1 resulted from heterozygous KCNJ10 variants. The distribution bias of PKD-related KCNJ10 variants as well as the male predominance in affected individuals shed light on the mechanism investigation of this subtype of PKD. © 2026 International Parkinson and Movement Disorder Society.
Motor-planning cerebello-cerebral network alterations in PRRT2-related paroxysmal kinesigenic dyskinesia.
Emerging preclinical evidence suggests that the cerebellum plays a critical role in paroxysmal kinesigenic dyskinesia (PKD) associated with proline-rich transmembrane protein 2 (PRRT2) mutations. This study aimed to investigate the role of cerebello-cerebral network in PKD patients with PRRT2 mutations (PKD-M) and PKD patients with no PRRT2 mutations (PKD-N). Resting-state functional magnetic resonance imaging scan was performed on 105 PKD patients (47 PKD-M and 58 PKD-N) and 62 healthy controls (HC). For seed-based functional connectivity (FC) analysis, the cerebellum was parcellated into 10 function-related regions through a functional atlas of the human cerebellum obtained by a multi-domain task battery. The cerebello-cerebral FC and regional homogeneity (ReHo) were examined using one-way analysis of covariance and two-sample t-test in PKD-M, PKD-N and HC. PKD-M had increased FC between a motor-planning related cerebellar region (region 4) and the middle cingulate gyrus, compared to HC. While PKD-M had decreased FC between this region and the lingual gyrus, compared to HC. PKD-M had increased FC between another cerebellar region (region 8) and the right inferior temporal gyrus/right superior frontal gyrus, compared to PKD-N. Additionally, PKD-M had decreased ReHo in the pons and the cerebellum anterior lobe and increased ReHo in the right inferior temporal gyrus, compared to HC. PRRT2 mutations may cause abnormalities in a motor-planning cerebello-cerebral network, which likely play a major role in the pathogenesis of PKD-M.
Clinical and Genetic Characteristics of Paroxysmal Kinesigenic Dyskinesia: A Single-Center Study and Literature Review.
Paroxysmal kinesigenic dyskinesia (PKD) is a genetically heterogeneous movement disorder primarily associated with PRRT2 variants. Recently, TMEM151A and KCNJ10 have emerged as additional PKD-associated genes. However, genotype-phenotype correlations remain poorly defined. In this study, we retrospectively analyzed 41 PKD patients from a single center in Southeastern China. All patients underwent comprehensive clinical evaluation and whole-exome sequencing (WES), with variant classification based on ACMG guidelines. Additionally, we conducted a literature review of PKD cohorts published since 2021 to compare the clinical characteristics of patients carrying PRRT2, TMEM151A, KCNJ10 variants, and those without identified mutations. A genetic diagnosis was achieved in 19/41 patients (46.3%), with PRRT2 being the most frequent. We identified five novel variants, including two in KCNJ10, two in TMEM151A, and one in PNKD. Compared to other groups, PRRT2-positive patients had the earliest onset and highest treatment response. TMEM151A-positive patients tended to exhibit more frequent attacks and a lower response to carbamazepine. KCNJ10-positive patients presented with later onset and ultra-brief attacks. Genetically negative cases displayed distinct features, including fewer auras and more unilateral, ultra-brief episodes, yet responded well to carbamazepine. PKD exhibits significant genotype-dependent clinical heterogeneity. Novel variants in TMEM151A and KCNJ10 expand the mutational spectrum and suggest emerging genotype-specific phenotypic trends. Systematic genetic and phenotypic profiling may guide more precise diagnosis and management of PKD.
Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion: A Case Report.
Paroxysmal kinesigenic dyskinesia (PKD) is a rare movement disorder which can present a diagnostic challenge. We present a case with video examples, of an uncommon cause of PKD. A 16-year-old male presented with abrupt onset, brief episodes of right-sided head version, usually accompanied by extension of the left and rarely right arm. He experienced preceding bilateral sensory disturbance in his legs. His twin brother was diagnosed with focal seizures. There were no neurodevelopmental concerns. Sudden movement preceded stereotypical episodes. MRI brain was unremarkable. Home video and video EEG were utilised to reach a clinical diagnosis. The clinical phenotype of PKD was recognised, and he was treated with low-dose carbamazepine. Next-generation sequencing showed no pathogenic variant in gene panels for dystonia or channelopathies, including the common genes associated with PKD such as PRRT2 mutations. Subsequent microarray testing demonstrated a pathogenic 599 kb gene deletion on the 16p11.2 region, which includes the PRRT2 gene, confirming the diagnosis of PKD. PKD is an important diagnosis to consider due to the potential delay in diagnosis, genetic implications, and treatment responsiveness. Video recordings are valuable diagnostic tools. When suspecting PKD, screening for PRRT2 variants as well as 16p11.2 microdeletions should be considered.
Publicações recentes
Heterozygous Loss-of-Function Variants of KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia.
A Case of Atypical Presentation of Paroxysmal Movement Disorder, Contributed to PRRT2 Gene Variant.
Motor-planning cerebello-cerebral network alterations in PRRT2-related paroxysmal kinesigenic dyskinesia.
Clinical and Genetic Characteristics of Paroxysmal Kinesigenic Dyskinesia: A Single-Center Study and Literature Review.
Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion: A Case Report.
📚 EuropePMC253 artigos no totalmostrando 194
Heterozygous Loss-of-Function Variants of KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia.
Movement disorders : official journal of the Movement Disorder SocietyA Case of Atypical Presentation of Paroxysmal Movement Disorder, Contributed to PRRT2 Gene Variant.
Journal of child neurologyMotor-planning cerebello-cerebral network alterations in PRRT2-related paroxysmal kinesigenic dyskinesia.
Parkinsonism & related disordersClinical and Genetic Characteristics of Paroxysmal Kinesigenic Dyskinesia: A Single-Center Study and Literature Review.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyParoxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion: A Case Report.
Case reports in neurologyMultiple phenotypic traits including developmental impairment in a Chinese family with infantile convulsion and choreoathetosis syndrome: a case study expanding the clinical spectrum of prrt2-related syndrome.
BMC pediatricsFunctional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2-Related Disorders.
Annals of clinical and translational neurologyTMEM151A-related Paroxysmal Kinesigenic Dyskinesia in first two Indian families.
Parkinsonism & related disordersParoxysmal Kinesigenic Dyskinesia With Infantile Convulsions in a Child With Inherited Co-deletion of 16p11.2 and 16p12.2: A Case Report and Literature Review.
CureusTransient Dysarthria and Hemiparesis in an Adolescent.
European journal of case reports in internal medicineParoxysmal Kinesigenic Dyskinesia - A Case Series of 20 Children From North India.
Neurology IndiaFaciobrachial dystonic seizure can be triggered by swallowing in LGI1 encephalitis.
BMC neurologyBeyond seizures: The genetic mystery of paroxysmal kinesigenic dyskinesia.
Epileptic disorders : international epilepsy journal with videotape[Clinical phenotypic and genetic analysis of three children with Paroxysmal kinesigenic dyskinesia and Self-limited familial infantile epilepsy caused by PRRT2 gene mutation].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsParoxysmal Kinesigenic Dyskinesia in Two Siblings With Novel Heterozygous TMEM151A Frameshift Variant: The First Case Report in Japan.
American journal of medical genetics. Part AGenotypic and phenotypic characteristics of ADGRV1 mutations in four children and functional validation in a zebrafish model.
GeneProprioceptive-Induced Reflex Seizure Mimicking Paroxysmal Kinesigenic Dyskinesia in Leucine-Rich Glioma-Inactivated 1 Antibody Encephalitis.
Journal of clinical neurology (Seoul, Korea)Deep Learning Recognition of Paroxysmal Kinesigenic Dyskinesia Based on EEG Functional Connectivity.
International journal of neural systemsUnilateral hemichorea and hemiballismus in a woman in her late 70s.
BMJ case reportsUnraveling the Membrane Topology of TMEM151A: A Step Towards Understanding its Cellular Role.
Journal of molecular biologyHeterozygous KCNJ10 Variants Affecting Kir4.1 Channel Cause Paroxysmal Kinesigenic Dyskinesia.
Movement disorders : official journal of the Movement Disorder SocietyGray matter structural alterations of cortico-striato-thalamo-cortical loop in familial Paroxysmal Kinesigenic Dyskinesia.
HeliyonPotassium Channel Subunit Kir4.1 Mutated in Paroxysmal Kinesigenic Dyskinesia: Screening of an Italian Cohort.
Movement disorders : official journal of the Movement Disorder SocietyProline-rich transmembrane protein 2 regulates the magnitude and frequency of dopamine release by repetitive neuronal stimuli in the striatum of L-dopa-treated mice.
Neuropsychopharmacology reportsParoxysmal movement disorders.
Handbook of clinical neurologyCanine paroxysmal dyskinesia-a review.
Frontiers in veterinary scienceThree siblings with self-limited familial infantile epilepsy with PRRT2 mutation: A case series.
SAGE open medical case reportsPseudohypoparathyroidism type 1B with involuntary movements: a case report and literature review.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyHeterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency.
Annals of neurologyEvaluating the Performance of In Silico Tools for PRRT2 Missense Variants.
Combinatorial chemistry & high throughput screeningA new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high-throughput detection of PRRT2 gene c.649 locus.
Molecular genetics & genomic medicineIdentification of a de novo CACNA1B variant and a start-loss ADRA2B variant in paroxysmal kinesigenic dyskinesia.
HeliyonBoth gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia.
Journal of genetics and genomics = Yi chuan xue baoLong-term low-dose lamotrigine for paroxysmal kinesigenic dyskinesia: a two-year investigation of cognitive function in children.
Frontiers in psychiatryMisdiagnosis of functional neurological symptom disorders in paediatrics: Narrative review and relevant case report.
Clinical child psychology and psychiatryDopa-responsive dystonia and paroxysmal dystonic attacks associated with ATP1A3 gene variant.
Practical neurologyEmergence of lingual dystonia and strabismus in early-onset SCN8A self-limiting familial infantile epilepsy.
Epileptic disorders : international epilepsy journal with videotapeRare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.
Movement disorders : official journal of the Movement Disorder SocietyA Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression.
Case reports in pediatricsGenetic and phenotypic analyses of PRRT2 positive and negative paroxysmal kinesigenic dyskinesia.
Therapeutic advances in neurological disordersAn Electroencephalography Profile of Paroxysmal Kinesigenic Dyskinesia.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Paroxysmal Kinesigenic Dyskinesia: Genetics and Pathophysiological Mechanisms.
Neuroscience bulletinEffects of PRRT2 mutation on brain gray matter networks in paroxysmal kinesigenic dyskinesia.
Cerebral cortex (New York, N.Y. : 1991)[A case of a pathological variant of the PRRT2 gene in twins with paroxysmal kinesiogenic dyskinesia].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaProline-rich transmembrane protein 2 knock-in mice present dopamine-dependent motor deficits.
Journal of biochemistryAssociated movement disorder as a clue for the diagnosis of paroxysmal kinesigenic dyskinesia in a child with focal epilepsy.
Journal of neurosciences in rural practiceFunctional Neurological Disorder Overlapping Paroxysmal Kinesigenic Dyskinesia Confirmed by Genetic Diagnosis.
CureusParoxysmal movement disorders: Paroxysmal dyskinesia and episodic ataxia.
Handbook of clinical neurologyA Curious Case of a Child With Recurrent Twisting Movements of Limbs.
CureusEvaluation of iron deposition in the motor CSTC loop of a Chinese family with paroxysmal kinesigenic dyskinesia using quantitative susceptibility mapping.
Frontiers in neurologyNon-Motor Symptoms and Quality of Life in Patients with PRRT2-Related Paroxysmal Kinesigenic Dyskinesia.
Movement disorders clinical practiceGenetic Movement Disorders Commonly Seen in Asians.
Movement disorders clinical practiceNine Hereditary Movement Disorders First Described in Asia: Their History and Evolution.
Journal of movement disordersTranslating Genetic Discovery into a Mechanistic Understanding of Pediatric Movement Disorders: Lessons from Genetic Dystonias and Related Disorders.
Advanced genetics (Hoboken, N.J.)Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels.
Neurobiology of diseaseLow-intensity ultrasound directly modulates neural activity of the cerebellar cortex.
Brain stimulationPeri-ictal EEG in infants with PRRT2-related self-limited infantile epilepsy.
Epileptic disorders : international epilepsy journal with videotapeTMEM151A variants associated with paroxysmal kinesigenic dyskinesia.
Human geneticsNovel missense variant in the TMEM151A gene causing paroxysmal kinesigenic dyskinesia: a case report with literature review.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyTMEM151A as an alternative to PRRT2 in paroxysmal kinesigenic dyskinesia: About three new cases.
Parkinsonism & related disordersThe Pathogenesis of Paroxysmal Kinesigenic Dyskinesia: Current Concepts.
Movement disorders : official journal of the Movement Disorder SocietyA novel SLC20A2 mutation presenting with paroxysmal kinesigenic dyskinesia and epilepsy in a Chinese patient: a case report.
Acta neurologica BelgicaClinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases.
Frontiers in pediatricsA Push-Pull Mechanism Between PRRT2 and β4-subunit Differentially Regulates Membrane Exposure and Biophysical Properties of NaV1.2 Sodium Channels.
Molecular neurobiologyElderly-Onset Paroxysmal Kinesigenic Dyskinesia: A Case Report.
Neurology and therapyPRRT2 gene mutations associated with infantile convulsions induced by sucking and the genotype-phenotype correlation.
Frontiers in neurologyMultiple Sclerosis-Related Paroxysmal Kinesigenic Dyskinesia: Long Term, Favorable Response to Lacosamide.
Journal of movement disordersTMEM151A phenotypic spectrum includes paroxysmal kinesigenic dyskinesia with infantile convulsions.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyPRRT2 mutation in a Japanese woman: Adult-onset focal epilepsy coexisting with movement disorders and cerebellar atrophy.
Epilepsy & behavior reportsScreening of the TMEM151A Gene in Patients With Paroxysmal Kinesigenic Dyskinesia and Other Movement Disorders.
Frontiers in neurologyHaploinsufficiency of PRRT2 Leading to Familial Hemiplegic Migraine in Chromosome 16p11.2 Deletion Syndrome.
NeuropediatricsDe Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia.
Movement disorders : official journal of the Movement Disorder SocietyCerebello-thalamofrontal dysconnectivity in paroxysmal kinesigenic dyskinesia: A resting-state fMRI study.
Parkinsonism & related disordersPRRT2 Mutation and Serum Cytokines in Paroxysmal Kinesigenic Dyskinesia.
Current medical scienceClinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia.
Journal of neurologyParoxysmal Kinesigenic Dyskinesia Secondary to Pseudohypoparathyroidism Responding to Correction of Calcium.
Movement disorders clinical practiceA new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome.
Brain & developmentA novel domain within the CIL regulates egress of IFITM3 from the Golgi and reveals a regulatory role of IFITM3 on the secretory pathway.
Life science allianceCharacteristics of infantile convulsions and choreoathetosis syndrome caused by PRRT2 mutation.
Pediatric investigationParoxysmal Kinesigenic Dyskinesia Masquerading as Dissociative Disorder: A Case Report on Pseudo-Dissociation.
Neurology IndiaParoxysmal Non-Kinesigenic Choreoathetosis Case Report and a Review of the Pathogenesis.
CureusParoxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features.
Neurology. GeneticsCase Report: A Case of Concomitant Paroxysmal Kinesigenic Dyskinesia and Epilepsy: Can We Treat Two Birds With One Stone?
Frontiers in neurologyFeatures Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants.
Movement disorders : official journal of the Movement Disorder SocietyCerebellum Dysfunction in Patients With PRRT2-Related Paroxysmal Dyskinesia.
NeurologyPRRT2- Associated Paroxysmal Kinesigenic Dyskinesia Only Evident with High-Speed Cricket Bowling.
Movement disorders clinical practiceExome-Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm TMEM151A as a Novel Causative Gene.
Movement disorders : official journal of the Movement Disorder SocietyCase Report: Long-Term Suppression of Paroxysmal Kinesigenic Dyskinesia After Bilateral Thalamotomy.
Frontiers in neurologySecondary Paroxysmal Kinesigenic Dyskinesia with a CASR Mutation.
Movement disorders : official journal of the Movement Disorder SocietyPenetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions.
Frontiers of medicineTMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large-Sample Study.
Movement disorders : official journal of the Movement Disorder SocietyParoxysmal Kinesigenic Dyskinesia Secondary to Brain Calcification with a Homozygous MYORG Mutation.
Movement disorders : official journal of the Movement Disorder SocietyA heterozygous deletion of PDGFB gene causes paroxysmal kinesigenic dyskinesia with primary familial brain calcification.
Parkinsonism & related disordersAuthor Correction: TMEM151A variants cause paroxysmal kinesigenic dyskinesia.
Cell discoverySuccessful Treatment of a Paroxysmal Kinesigenic Dyskinesia Patient with Carbamazepine-Induced Stevens-Johnson Syndrome Using Oxcarbazepine Monotherapy: A Case Report.
Case reports in neurologyAn Emerging Role of PRRT2 in Regulating Growth Cone Morphology.
CellsHemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study.
NeurologyCarbamazepine-Responsive Chorea in a Toddler with Semilobar Holoprosencephaly: Case Report.
Journal of pediatric neurosciencesCerebellar spreading depolarization mediates paroxysmal movement disorder.
Cell reportsTMEM151A variants cause paroxysmal kinesigenic dyskinesia.
Cell discoveryExpanding the phenotypic spectrum of pathogenic variants in the PRRT2 gene: bilateral papilledema and abducens nerve palsies secondary to pseudotumor cerebri syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusPRRT2 Gene Mutations in Indian Paroxysmal Kinesigenic Dyskinesia Patients.
Annals of Indian Academy of NeurologyNovel Mutation in CACNA1A Associated with Activity-Induced Dystonia, Cervical Dystonia, and Mild Ataxia.
Case reports in neurological medicinePhenotypic characterisation of paroxysmal dyskinesia in Sphynx cats.
Journal of feline medicine and surgeryGenetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders.
Frontiers in neurologyA case of paroxysmal kinesigenic dyskinesia suspected to be reflex epilepsy.
Nagoya journal of medical scienceAge-dependent neurological phenotypes in a mouse model of PRRT2-related diseases.
NeurogeneticsThe Genotype and Phenotype of Proline-Rich Transmembrane Protein 2 Associated Disorders in Chinese Children.
Frontiers in pediatricsArrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Probably Caused by DSG2 p.Val149Ile Mutation as Genetic Background When Carrying with Heterozygous PRRT2 p.Arg217ProfsTer8 Mutation: A Case Report.
International medical case reports journalParoxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome.
Neurology. GeneticsBeyond the AMPA receptor: Diverse roles of SynDIG/PRRT brain-specific transmembrane proteins at excitatory synapses.
Current opinion in pharmacologyParoxysmal Genetic Movement Disorders and Epilepsy.
Frontiers in neurologyNovel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families.
Experimental and therapeutic medicineThe Spectrum of PRRT2-Associated Disorders: Update on Clinical Features and Pathophysiology.
Frontiers in neurologyAn interaction between PRRT2 and Na+/K+ ATPase contributes to the control of neuronal excitability.
Cell death & diseaseFamilial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEA.
Journal of human geneticsExercise test for patients with new-onset paroxysmal kinesigenic dyskinesia.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyRecommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China.
Translational neurodegenerationGeneration of an induced pluripotent stem cell line (ZZUi022-A) from a paroxysmal kinesigenic dyskinesia individual carrying the PRRT2 gene mutation.
Stem cell researchParoxysmal kinesigenic dyskinesia: a diagnostic challenge.
BMJ case reportsParoxysmal kinesigenic dyskinesia associated with a novel POLG variant: A case report.
MedicineIncreased responsiveness at the cerebellar input stage in the PRRT2 knockout model of paroxysmal kinesigenic dyskinesia.
Neurobiology of diseaseBiallelic XPR1 mutation associated with primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia with infantile convulsions.
Brain & developmentA Child Who Suddenly Freezes While Trying to Cross Crosswalks-Unique Clinical Manifestation of Paroxysmal Kinesigenic Dyskinesia: A Case Report.
Children (Basel, Switzerland)Neural Mechanisms of Paroxysmal Kinesigenic Dyskinesia: Insights from Neuroimaging.
Journal of neuroimaging : official journal of the American Society of NeuroimagingThe Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.
BiomedicinesDisruption of gray matter morphological networks in patients with paroxysmal kinesigenic dyskinesia.
Human brain mappingProline-rich transmembrane protein 2 (PRRT2) regulates the actin cytoskeleton during synaptogenesis.
Cell death & diseaseSevere Choreo-Ballism Episodes Due to PRRT2 Gene Mutations-A Vignette.
Movement disorders clinical practiceZonisamide Therapy for Patients With Paroxysmal Kinesigenic Dyskinesia.
Pediatric neurologyPresynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia.
NeuroscienceA Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia - A comprehensive mutational analysis.
Journal of the neurological sciencesParoxysmal dyskinesia and epilepsy in pseudohypoparathyroidism.
Molecular genetics & genomic medicineClinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyBrain structural connectome in relation to PRRT2 mutations in paroxysmal kinesigenic dyskinesia.
Human brain mappingA Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion.
Behavioural neurologyLacosamide for children with paroxysmal kinesigenic dyskinesia.
Brain & developmentThe Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.
Movement disorders : official journal of the Movement Disorder SocietyNovel mutation of the PRRT2 gene in two cases of paroxysmal kinesigenic dyskinesia: Two case reports.
Biomedical reportsPrimary brain calcification due to a homozygous MYORG mutation causing isolated paroxysmal kinesigenic dyskinesia.
Brain : a journal of neurologyTreatment of Paroxysmal Dyskinesia.
Neurologic clinicsDifferent experiences of two PRRT2-associated self-limited familial infantile epilepsy.
Acta neurologica BelgicaCorrigendum to "PRRT2 frameshift mutation reduces its mRNA stability resulting loss of function in paroxysmal kinesigenic dyskinesia".
Biochemical and biophysical research communicationsAltered topological organization of functional brain networks in drug-naive patients with paroxysmal kinesigenic dyskinesia.
Journal of the neurological sciencesComplicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.
Annals of translational medicineParoxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa.
Tremor and other hyperkinetic movements (New York, N.Y.)[Identification of two novel PRRT2 gene variants in two children with paroxysmal kinesigenic dyskinesia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsActivity-dependent cleavage of dyskinesia-related proline-rich transmembrane protein 2 (PRRT2) by calpain in mouse primary cortical neurons.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyPRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
Italian journal of pediatricsPRRT2 frameshift mutation reduces its mRNA stability resulting loss of function in paroxysmal kinesigenic dyskinesia.
Biochemical and biophysical research communicationsClinical features of patients with paroxysmal kinesigenic dyskinesia, mutation screening of PRRT2 and the effects of morning draughts of oxcarbazepine.
BMC pediatricsParoxysmal Kinesigenic Dyskinesia Symptoms Markedly Reduced with Parenteral Vitamins and Minerals: A Case Report.
The Permanente journalPrimary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia: Genetic and functional analyses.
Neuroscience lettersGenetic and clinical analyses of spinocerebellar ataxia type 8 in mainland China.
Journal of neurologyTics in Paroxysmal Kinesigenic Dyskinesia.
Movement disorders clinical practiceParoxysmal Movement Disorders: Recent Advances.
Current neurology and neuroscience reportsPhenotypic Diversity of Myoclonus Epilepsy Associated with Ragged-red Fibers with an 8344A>G mtDNA Mutation.
Internal medicine (Tokyo, Japan)PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia.
SeizurePRRT2 missense mutations cluster near C-terminus and frequently lead to protein mislocalization.
EpilepsiaParoxysmal movement disorders: Recent advances and proposal of a classification system.
Parkinsonism & related disordersParoxysmal and cognitive phenotypes in Prrt2 mutant mice.
Genes, brain, and behaviorThe experience of the multidisciplinary team in epilepsy management from a resource-limited country.
Epilepsia openAssociations between neuroanatomical abnormality and motor symptoms in paroxysmal kinesigenic dyskinesia.
Parkinsonism & related disordersParoxysmal Dyskinesias in a PRRT2 Mutation Carrier.
Tremor and other hyperkinetic movements (New York, N.Y.)Paroxysmal Kinesigenic Dyskinesia Presented Following Concussion.
Journal of movement disordersAcute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association[Clinical characteristics and genetic features of benign infantile epilepsy with PRRT2 mutation].
Zhonghua er ke za zhi = Chinese journal of pediatricsAberrant Sensory Gating of the Primary Somatosensory Cortex Contributes to the Motor Circuit Dysfunction in Paroxysmal Kinesigenic Dyskinesia.
Frontiers in neurologyPRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by influencing synaptic function in the primary motor cortex of rats.
Neurobiology of disease16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability.
Brain and behaviorThe study of exercise tests in paroxysmal kinesigenic dyskinesia.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyParoxysmal Dyskinesia in Children: from Genes to the Clinic.
Journal of clinical neurology (Seoul, Korea)[Paroxysmal dyskinesias - disorder categories, their causes and treatment].
Wiadomosci lekarskie (Warsaw, Poland : 1960)PRRT2-related phenotypes in patients with a 16p11.2 deletion.
European journal of medical geneticsA PRRT2 variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction with STX1B.
EpilepsiaFalling After Starting Running in a Case of Myoclonus Epilepsy Associated with Ragged-red Fibers with a 8344A>G mtDNA Mutation.
Internal medicine (Tokyo, Japan)Quick Flicks: Association of Paroxysmal Kinesigenic Dyskinesia and Tics.
Movement disorders clinical practiceMisdiagnosed atypical paroxysmal kinesigenic dyskinesia: a case report.
Neuropsychiatric disease and treatmentPhenotypes, genotypes, and the management of paroxysmal movement disorders.
Developmental medicine and child neurologyPRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.
Brain : a journal of neurologyCHRNA4 variant causes paroxysmal kinesigenic dyskinesia and genetic epilepsy with febrile seizures plus?
SeizureParoxysmal Kinesigenic Dyskinesia.
Indian pediatricsMyotonia Congenita Can Be Mistaken as Paroxysmal Kinesigenic Dyskinesia.
Journal of movement disordersProline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.
Movement disorders : official journal of the Movement Disorder SocietyFamilial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Human molecular geneticsTranscallosal conduction in paroxysmal kinesigenic dyskinesia.
Somatosensory & motor researchPRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures.
The International journal of neuroscienceA novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures.
Cold Spring Harbor molecular case studiesPRRT2-dependent dyskinesia: cerebellar, paroxysmal and persistent.
Cell research[Clinical manifestations and genetic diagnosis of paroxysmal kinesigenic dyskinesia].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsPRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum.
Cell researchThalamotomy for paroxysmal kinesigenic dyskinesias in a multiplex family.
European journal of neurologyA case of paroxysmal kinesigenic dyskinesia which exhibited the phenotype of anxiety disorder.
Neuropsychiatric disease and treatmentDepression, anxiety, and quality of life in paroxysmal kinesigenic dyskinesia patients.
Chinese medical journalAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Discinesia paroxística cinesigênica.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Discinesia paroxística cinesigênica
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- A Case of Atypical Presentation of Paroxysmal Movement Disorder, Contributed to PRRT2 Gene Variant.
- Heterozygous Loss-of-Function Variants of KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia.Movement disorders : official journal of the Movement Disorder Society· 2026· PMID 41772895mais citado
- Motor-planning cerebello-cerebral network alterations in PRRT2-related paroxysmal kinesigenic dyskinesia.
- Clinical and Genetic Characteristics of Paroxysmal Kinesigenic Dyskinesia: A Single-Center Study and Literature Review.FASEB journal : official publication of the Federation of American Societies for Experimental Biology· 2026· PMID 41553070mais citado
- Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion: A Case Report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98809(Orphanet)
- MONDO:0044202(MONDO)
- GARD:8721(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q3042113(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar