Grupo de distúrbios neurológicos genéticos causados por mutações em genes envolvidos nos canais de sódio e cálcio nas células nervosas. É caracterizada por episódios de paralisia muscular em que os músculos afetados ficam flácidos e os reflexos tendinosos profundos desaparecem. Entre os episódios os músculos afetados geralmente funcionam normalmente.
Introdução
O que você precisa saber de cara
Grupo de distúrbios neurológicos genéticos causados por mutações em genes envolvidos nos canais de sódio e cálcio nas células nervosas. É caracterizada por episódios de paralisia muscular em que os músculos afetados ficam flácidos e os reflexos tendinosos profundos desaparecem. Entre os episódios os músculos afetados geralmente funcionam normalmente.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 53 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 142 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
9 genes identificados com associação a esta condição.
Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it (PubMed:36149965, PubMed:7590287, PubMed:9490857). 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:7590287, PubMed:7696590). The inward rectification is mainly due to the blockage of outward current by inter
Cell membraneCell membrane, sarcolemma, T-tubule
Long QT syndrome 7
A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 7 manifests itself as a clinical triad consisting of potassium-sensitive periodic paralysis, ventricular ectopy and dysmorphic features.
Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. 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. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium. This potassium channel is control
Membrane
Long QT syndrome 13
A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.
Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. 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. The inward rectification is mainly due to the blockage of outward current by internal magnesium
Cell membraneEndoplasmic reticulum
Thyrotoxic periodic paralysis 2
A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease.
Ancillary protein that functions as a regulatory subunit of the voltage-gated potassium (Kv) channel complex composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits. KCNE3 beta subunit modulates the gating kinetics and enhances stability of the channel complex (PubMed:10646604, PubMed:11207363, PubMed:12954870). Alters the gating of the delayed rectifier Kv channel containing KCNB1 alpha subunit (PubMed:12954870). Associates with KCNC4/Kv3.4 alpha subunit
Cell membraneCytoplasmPerikaryonCell projection, dendriteMembrane raft
Brugada syndrome 6
A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.
Alpha subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:16412217, PubMed:29053855). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s) (By similarity). When activated by GABA, GABAARs selectively allow the flow of chloride an
Postsynaptic cell membraneCell membrane
Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
A neurologic disorder characterized by variable combinations of epileptic seizure, and a varying degree of intellectual disability and developmental delay. Some patients have dysmorphic facial features or mild skeletal anomalies. In general, males are more severely affected than females, although there is evidence for incomplete penetrance in both sexes.
Subunit a, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (Probable). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (PubMed:37244256). These two domains are linked by a central stalk rotating inside the F(1
Mitochondrion inner membrane
Neuropathy, ataxia, and retinitis pigmentosa
A syndrome characterized by variable combination of developmental delay, psychomotor retardation, hearing loss, optic atrophy and retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy.
Subunit 8, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (PubMed:37244256). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (PubMed:37244256). These two domains are linked by a central stalk rotating inside
Mitochondrion membrane
Mitochondrial complex V deficiency, mitochondrial 2
A mitochondrial disorder with heterogeneous clinical manifestations including neuropathy, ataxia, hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy, minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course.
Pore-forming, alpha-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle via their interaction with RYR1, which triggers Ca(2+) release from the sarcoplasmic reticulum and ultimately results in muscle contraction. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group
Cell membrane, sarcolemma, T-tubule
Periodic paralysis hypokalemic 1
An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels.
Pore-forming subunit of Nav1.4, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient.
Cell membrane
Paramyotonia congenita
An autosomal dominant channelopathy characterized by myotonia, increased by exposure to cold, intermittent flaccid paresis, not necessarily dependent on cold or myotonia, lability of serum potassium, non-progressive nature and lack of atrophy or hypertrophy of muscles. In some patients, myotonia is not increased by cold exposure (paramyotonia without cold paralysis). Patients may have a combination phenotype of PMC and HYPP.
Variantes genéticas (ClinVar)
305 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
15 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 — Paralisia periódica genética
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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
The importance of comprehensive diagnostic work-up and genetic testing to reveal Andersen-Tawil syndrome-a case report.
Andersen-Tawil syndrome is characterized by a symptom triad of cardiac electrical abnormalities, periodic muscular paralysis, and distinct dysmorphic manifestations. A history of unexplained syncope has been associated with a more serious phenotype with increased risk of life-threatening arrhythmia. Due to the syndrome's rarity and highly variable clinical presentation, diagnosis remains challenging. This report highlights the importance of comprehensive diagnostic workup following a sudden cardiac arrest, particularly emphasizing the value of genetic testing. We present a 61-year-old male hypertensive patient who initially presented with a first-time syncopal episode. Initial investigations revealed ventricular ectopy exceeding 12 000 premature ventricular contractions, occasional QT prolongation of >500 ms, and mildly reduced left ventricular ejection fraction (50%). Outpatient diagnostic investigations did not yield a diagnosis. While awaiting ablation, the patient suffered from an out-of-hospital cardiac arrest and was successfully resuscitated after 17 min. Complete diagnostic work-up including guideline-adherent assessments and genetic testing eventually revealed Andersen-Tawil syndrome. The subsequent family evaluations supported the diagnosis. Diagnosis was unexpected as the patient presented with isolated cardiac manifestations and a late onset of symptoms. Cardiomyopathy and primary arrhythmic disorders were relevant differential diagnoses and investigated during admission. No clinical assessment is pathognomonic for Andersen-Tawil syndrome, making genetic testing essential for establishing a definitive diagnosis. While historically characterized as a long QT variant, research suggests Andersen-Tawil syndrome is its own disease entity. Pharmacological management follows established channelopathy principles, though the protective efficacy of beta-blockers and flecainide remains uncertain in this syndrome.
Case Report of Andersen-Tawil Syndrome: Rare Presentation of a Rare Disease.
Andersen-Tawil syndrome (ATS) is a rare genetic disorder characterized by a triad of periodic paralysis, cardiac arrhythmias, and dysmorphic features, typically presenting in the first two decades of life. A 45-year-old man presented with acute lower motor neuron-type quadriparesis. He reported similar self-resolving episodes over the past 2 years, triggered by rest after exercise. There were no cardiac symptoms, dysmorphic features, or relevant family history. Biochemical evaluation revealed hypokalemia. Genetic testing confirmed a heterozygous nonsense mutation in the KCNJ2 gene (c.13C>T, p.Arg5Ter). Cardiac and dental evaluations were normal. He was treated with potassium supplementation and later acetazolamide, with no recurrence over 2 years. This case highlights a rare adult-onset presentation of ATS without cardiac or dysmorphic features and a negative family history, contributing to the limited adult ATS literature.
Novel CACNA1S Mutation c.3491 A>C in Hypokalemic Periodic Paralysis: First Report with Functional Validation.
Hypokalemic periodic paralysis (HypoPP) is a muscle disease caused by abnormal ion channels and is characterized by recurrent skeletal muscle relaxation paralysis and hypokalemia. There are obvious triggers before disease onset, such as cold, excessive exercise, excessive consumption of sugary and high-energy foods, and overeating. The aim of this study was to elucidate the pathogenic mechanism of novel mutations in the voltage-dependent L-type calcium channel subunit alpha-1 S (CACNA1S) gene associated with HypoPP. Method: Whole-exome sequencing and American College of Medical Genetics and Genomics (ACMG) compliance analysis were performed, supplemented by serum potassium and blood biochemistry tests for bioinformatics analysis. We report a 13-year-old adolescent male patient with hypokalemic periodic paralysis, who complained of limb muscle weakness accompanied by pain for 10 h. Whole-exome sequencing revealed a mutation in the CACNA1S gene (NM_000069.3: exon27: c.3491 A>C [p. Glu1164Ala]), which was classified as an uncertain mutation. The clinical presentation and protein structure prediction of the gene mutation confirmed its pathogenic role and mechanism. The mutation caused a conformational change in the calcium ion channel. This study revealed a new mutation site in the HypoPP gene and proposed the possibility of a new pathogenesis. Moreover, obesity and low magnesium are two factors that induce HypoPP, which may increase the risk of disease.
Sex determination and genetic screening of equine embryos with whole genome amplification and real-time PCR.
Reliable pre-implantation sex determination and genetic screening enables informed embryo transfer decisions in equine breeding while avoiding later interventions. We developed a streamlined workflow that couples rapid whole genome amplification (WGA) with a multiplex real-time PCR targeting ETSTY5 as a Y-specific marker and UBC as an autosomal control. On purified equine DNA, sex was correctly assigned down to 10 pg gDNA and to a single fibroblast cell. Direct testing of embryo biopsies without WGA yielded inconsistent results, whereas introducing a short WGA step produced tight allelic-discrimination clusters and 100% diagnostic calls, including in cloned embryos of known sex. The same WGA product supported targeted genotyping for inherited disease screening of hyperkalemic periodic paralysis (HYPP) and hereditary equine regional dermal asthenia (HERDA) alleles. This WGA plus real-time PCR pipeline supports robust and practical embryo sexing and targeted pre-implantation genetic diagnostics within in vitro produced (IVP) equine embryo and embryo transfer workflows.
Clinical features and advances in the genetics of periodic paralysis.
Periodic paralysis (PP) is a group of ion channel diseases with incomplete autosomal dominant inheritance, except in sporadic patients. Ion channel gene mutations cause transient abnormalities in skeletal muscle excitability and muscle weakness. Different mutation sites cause different pathogenesis, which is very important for the classification, clinical manifestations, treatment and prognosis of periodic paralysis. Currently, the recognized mutated genes are CACNA1S (chromosome 1q31-32), SCN4A (chromosome 17q23-25), KCNJ2 (chromosome 17q23), and KCNJ18 (chromosome 17p11.2). The common mutation sites include R528H and R1239H in CACNA1S, and R672H and T704M in SCN4A. However, there is accumulating evidence that other mutation sites in CACNA1S and SCN4A, and even new ion channel mutations may induce periodic paralysis. Their different pathogenesis, clinical features and therapeutic measures have been widely described. This review will introduce the clinical manifestations of periodic paralysis, the different mutation sites of each ion channel, and the pathogenesis. Based on the clinical types of periodic paralysis, the characteristics of the latter are further discussed.
Publicações recentes
Clinical features and advances in the genetics of periodic paralysis.
Novel CACNA1S Mutation c.3491 A>C in Hypokalemic Periodic Paralysis: First Report with Functional Validation.
Efficacy of a K(+) Channel Agonist, XEN1101, For Preserving Contractility in Mouse Models of Hypokalemic Periodic Paralysis.
Efficacy of Retigabine in Treating Weakness in a Mouse Model of Hypokalemic Periodic Paralysis.
Thyrotoxic Hypokalemic Periodic Paralysis: Pathophysiological Mechanisms.
📚 EuropePMCmostrando 196
Sex determination and genetic screening of equine embryos with whole genome amplification and real-time PCR.
The Journal of reproduction and developmentClinical features and advances in the genetics of periodic paralysis.
PeerJCase Report: Dominant deafness-onychodystrophy syndrome and hypokalemic periodic paralysis in a single patient: a rare syndromic overlap.
Frontiers in pediatricsThe Clinical, Histological, and Genetic Spectrum of RYR1 Variants-A Multi-Center Israeli Cohort Study.
Journal of clinical medicineThe importance of comprehensive diagnostic work-up and genetic testing to reveal Andersen-Tawil syndrome-a case report.
European heart journal. Case reportsCase Report of Andersen-Tawil Syndrome: Rare Presentation of a Rare Disease.
Annals of Indian Academy of NeurologyNovel CACNA1S Mutation c.3491 A>C in Hypokalemic Periodic Paralysis: First Report with Functional Validation.
Journal of molecular neuroscience : MNEfficacy of a K+ Channel Agonist, XEN1101, For Preserving Contractility in Mouse Models of Hypokalemic Periodic Paralysis.
Muscle & nerveHypokalemic Periodic Paralysis Associated With a Rare CACNA1S Variant (p.Leu1243Val): Expanding the Mutational Spectrum.
Case reports in geneticsEfficacy of Retigabine in Treating Weakness in a Mouse Model of Hypokalemic Periodic Paralysis.
Muscle & nerveA Pediatric Case of Hypokalemic Periodic Paralysis With Fatigue and Myalgia.
CureusThyrotoxic Periodic Paralysis (TPP): A Comprehensive Review with Regional Insights from the Middle East.
Cureus[Functional analysis of the mutant channels associated with skeletal muscle channelopathies].
Nihon yakurigaku zasshi. Folia pharmacologica JaponicaPerinatal Management of Andersen-Tawil Syndrome Using a Wearable Cardioverter-Defibrillator: A Case Report.
The journal of obstetrics and gynaecology researchThyrotoxic Hypokalemic Periodic Paralysis: Pathophysiological Mechanisms.
Endocrinology and metabolism (Seoul, Korea)Nonthyroidal illness syndrome and diagnostic utility of CSF mNGS: insights from a case series of neurological scrub typhus.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious DiseasesExploring Etiologies of Hypokalemic Paralysis: A Case Series.
The Journal of the Association of Physicians of IndiaGenetic Study of a Greek Family with Hypokalemic Periodic Paralysis in Four Generations.
Advances in experimental medicine and biologyHypokalemic Periodic Paralysis: A Case Report.
CureusSudden Tetraplegia from Hypokalaemic Periodic Paralysis Due to Cacna1s Mutation: Should Genetic Testing be Performed More Often?
European journal of case reports in internal medicineMuscle Channelopathies and Rhabdomyolysis.
Continuum (Minneapolis, Minn.)Genetic analysis of a family with skeletal muscle ion channelopathy and hereditary spastic paraplegia type 7 caused by SCN4A and SPG7 double mutations.
GeneClinical and molecular mechanistic insights into the WDR72 mutation.
BMJ case reportsRedefining periodic paralysis with CACNA1S mutation in a Spanish cohort.
NeurologiaGeneration of three iPSC lines from patients with CACNA1S related congenital myopathy.
Stem cell researchCOVID-19 infection and intense physical activity in hypokalemic periodic paralysis.
Boletin medico del Hospital Infantil de MexicoMolecular genetics of skeletal muscle channelopathies.
Journal of human geneticsHypokalemic periodic paralysis associated with the atypical CACNA1S c.2690G>A (p.Arg897Lys) variant: description of 14 affected individuals from five families.
Neuromuscular disorders : NMDExploring self-management of diet and physical activity in CACNA1S-related hypokalemic periodic paralysis: A qualitative interview study.
Journal of neuromuscular diseasesSemaglutide reverses the chronic myopathy of hyperkalemic periodic paralysis: a case report.
BMC nephrologyAtypical Electrophysiological Pattern in Hypokalemic Periodic Paralysis With CACNA1S Mutation: A Case Report.
CureusPotassium-sensitive loss of muscle force in the setting of reduced inward rectifier K+ current: Implications for Andersen-Tawil syndrome.
Proceedings of the National Academy of Sciences of the United States of AmericaBroadening the Phenotypic Range: KCNJ2 Variant Linked to Isolated Periodic Paralysis with Fixed Myopathy.
Annals of Indian Academy of NeurologySTIM1 in-frame deletion of eight amino acids in a patient with moderate tubular aggregate myopathy/Stormorken syndrome.
Journal of medical geneticsHow nutrigenomics impacts equine health - A case study of vitamin E.
Journal of equine veterinary scienceCACNA1S-associated triadopathy presenting with myalgia, muscle weakness, and asymptomatic hyperCKemia.
Therapeutic advances in neurological disordersNovel mutation in KCNJ2 gene causes long QT interval syndrome type 7 and learning disability: A case report.
Medicine[Hypokalemia: Not Just Tubulopathies].
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologiaMechanisms underlying the distinct K+ dependencies of periodic paralysis.
The Journal of general physiologyGenetics of Muscle Disease.
The Veterinary clinics of North America. Equine practiceAtypical Presentation of Andersen-Tawil Syndrome: Heart Failure with Reduced Ejection without Periodic Paralysis or Dysmorphic Features.
European journal of case reports in internal medicinePeriodic paralysis across the life course: age-related phenotype transition and sarcopenia overlap.
Frontiers in neurologyMuscle Contractility in Hypokalemic Periodic Paralysis.
Muscle & nerveFunctional ultrasound and brain connectivity reveal central nervous system compromise in Trembler-J mice model of Charcot-Marie-Tooth disease.
Scientific reportsBartter Syndrome With Recurrent Hypokalemic Periodic Paralysis: A Case Report.
CureusHypokalemic periodic paralysis presenting as cardiac arrest.
BMJ case reports[Andersen-Tawil Syndrome, a differential of bidirectional ventricular tachycardia: a case report].
Archivos peruanos de cardiologia y cirugia cardiovascularA Novel CLCN1 Gene Mutation Associated with Hypokalemic Periodic Paralysis in a Pregnant Woman.
The Israel Medical Association journal : IMAJPeriodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency.
American journal of medical genetics. Part AClinical, myopathological, and genetic features of two Chinese families with Andersen-Tawil syndrome.
Frontiers in neurologyFamilial hypokalemic periodic paralysis: a case induced by concurrent hyperthyroidism.
BMC nephrologyThyrotoxic periodic paralysis complicated by carbimazole-associated myositis.
BMJ case reportsGenetic background of neonatal hypokalemia.
Pediatric nephrology (Berlin, Germany)A Late Diagnosis of Andersen-Tawil Syndrome in Teenage Siblings.
Pediatric neurologyPediatric neuromuscular channelopathies.
Handbook of clinical neurologyCore myopathy in two siblings with a biallelic variant in the CACNA1S gene-A case series study.
Clinical case reports[A case report of a MODY 10 family presenting as hypokalemic periodic paralysis].
Zhonghua nei ke za zhiQuality of life in hypokalemic periodic paralysis - a survey.
Neuromuscular disorders : NMDEarly-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene.
Journal of neuromuscular diseasesAtypical Normokalemic Case of Thyrotoxic Periodic Paralysis in a Pediatric Patient.
CureusHyperkalemic Periodic Paralysis Secondary to End-Stage Renal Disease and Excess Potato Consumption.
CureusPhenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report.
BiomoleculesGenetic analysis of 37 cases with primary periodic paralysis in Chinese patients.
Orphanet journal of rare diseasesNovel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review.
HeliyonAllele frequency of muscular genetic disorders in bull-catching (vaquejada) quarter horses.
Journal of equine veterinary scienceTranscriptome and open chromatin analysis reveals the process of myocardial cell development and key pathogenic target proteins in Long QT syndrome type 7.
Journal of translational medicineHypokalemic Periodic Paralysis Type 2 Due to SCN4A Val1105Met Mutation: A Case Study.
CureusSpecial electromyographic features in a child with paramyotonia congenita: A case report and review of literature.
World journal of clinical casesCrossover randomized controlled trial of bumetanide to rescue an attack of exercise induced hand weakness in hypokalaemic periodic paralysis.
Neuromuscular disorders : NMDA retrospective study of accuracy and usefulness of electrophysiological exercise tests.
Journal of neurologyNewly Diagnosed Hypokalemic Periodic Paralysis Triggered by COVID-19.
CureusDiagnostics in skeletal muscle channelopathies.
Expert review of molecular diagnosticsPrevalence and risk factors of low vitamin D levels in children and adolescents with familial hypokalemic periodic paralysis.
European journal of pediatricsCase report: A novel CACNA1S mutation associated with hypokalemic periodic paralysis.
Frontiers in neurologyA novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review.
BMC pediatricsHypokalemic periodic paralysis: a 3-year follow-up study.
Journal of neurologyTwo Cases of Periodic Paralysis Associated With MCM3AP Variants.
Journal of clinical neuromuscular diseaseMuscle MRI in periodic paralysis shows myopathy is common and correlates with intramuscular fat accumulation.
Muscle & nervePotential Benefit of Channel Activators in Loss-of-Function Primary Potassium Channelopathies Causing Heredoataxia.
Cerebellum (London, England)A case report of Andersen-Tawil syndrome misdiagnosed with myodystrophy.
Frontiers in neurologyCode Pseudo Stroke - A Case of Hypokalaemic Periodic Paralysis Mimicking Stroke.
European journal of case reports in internal medicineCare Recommendations for the Investigation and Management of Children With Skeletal Muscle Channelopathies.
Pediatric neurologyPanic Attack, Severe Hypophosphatemia and Rhabdomyolysis in the Setting of a Motor Functional Neurological Disorder.
Brain sciencesOptical measurement of gating pore currents in hypokalemic periodic paralysis model cells.
Disease models & mechanismsGitelman syndrome with Graves' disease leading to rhabdomyolysis: a case report and literature review.
BMC nephrologyThyrotoxic periodic paralysis in a Caucasian man without identifiable genetic predisposition: a case report.
Thyroid researchSinus arrest in familial hypokalemic periodic paralysis caused by SCN4A mutation: a case report.
European review for medical and pharmacological sciencesThyrotoxic Periodic Paralysis With Severe Hypokalemia Precipitated by Acute Alcohol Intoxication in a Patient With Graves' Disease.
CureusPrevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Neuromuscular disorders : NMDMuscle fat replacement and contractility in patients with skeletal muscle sodium channel disorders.
Scientific reportsGene panel analysis of 119 index patients with suspected periodic paralysis in Japan.
Frontiers in neurologyThyrotoxic periodic paralysis associated with lactic metabolic acidosis: Case report of an African man and review of literature.
Annales d'endocrinologieCase report: SCN4A p.R1135H gene variant in combination with thyrotoxicosis causing hypokalemic periodic paralysis.
Frontiers in neurologyPathophysiologic approach in genetic hypokalemia: An update.
Annales d'endocrinologieHyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4.
Brain & developmentDrug repurposing in skeletal muscle ion channelopathies.
Current opinion in pharmacologyAtypical presentation of hypokalemic periodic paralysis: A case report.
Muscle & nerveHypokalemic Periodic Paralysis Exacerbated by Carbohydrate Load: A Case Report.
CureusNovel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review.
World journal of clinical casesPrevalence of Genetic Mutations in Horses With Muscle Disease From a Neuromuscular Disease Laboratory.
Journal of equine veterinary sciencePeriodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations.
Muscle & nerveCase report: Mexiletine suppresses ventricular arrhythmias in Andersen-Tawil syndrome.
Frontiers in cardiovascular medicineCase report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis.
Frontiers in neurologyEuropean Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders.
European journal of neurologyMolecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome.
Cardiovascular researchA dangerous food binge: a case report of hypokalemic periodic paralysis and review of current literature.
Italian journal of pediatricsVoltage-dependent Ca2+ release is impaired in hypokalemic periodic paralysis caused by CaV1.1-R528H but not by NaV1.4-R669H.
American journal of physiology. Cell physiologyChildbirth with epidural analgesia in a pregnant woman with hypokalemic periodic paralysis.
Revista espanola de anestesiologia y reanimacionPhenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.
European journal of neurologyEfficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome.
European journal of medical geneticsAtypical Fracture of Femur in Association with Familial Hypokalemic Periodic Paralysis: A Case Report.
Journal of orthopaedic case reportsDevelopment of high-affinity nanobodies specific for NaV1.4 and NaV1.5 voltage-gated sodium channel isoforms.
The Journal of biological chemistryAgeing contributes to phenotype transition in a mouse model of periodic paralysis.
JCSM rapid communicationsAndersen-Tawil Syndrome With Novel Mutation in KCNJ2: Case Report.
Frontiers in pediatricsRefractory familial hypokalaemic periodic paralysis leading to cardiovascular compromise.
BMJ case reportsNovel CACNA1S mutation in hypokalaemic periodic paralysis.
BMJ case reportsAndersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.
Brain : a journal of neurologyCharacterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.
Frontiers in geneticsThe long exercise test as a functional marker of periodic paralysis.
Muscle & nerveVacuolar Myopathy Associated to CACNA1S Mutation as a Rare Cause of Late-Onset Limb-Girdle Myopathy: A Case Report.
CureusCase Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese Family.
Frontiers in geneticsCatheter ablation of frequent monomorphic ventricular arrhythmias in Andersen-Tawil syndrome: case report and focused literature review.
Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacingMutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
NeurogeneticsGenetic Screening of Patients with Thyrotoxic Hypokalemic Periodic Paralysis: An Experience from a Tertiary Care Hospital in the Northeast of Brazil.
Endocrine, metabolic & immune disorders drug targetsGating pore currents occur in CaV1.1 domain III mutants associated with HypoPP.
The Journal of general physiologyp.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyConfirming Genetic Abnormalities of Hypokalemic Periodic Paralysis Using Next-Generation Sequencing: A Case Report and Literature Review.
Electrolyte & blood pressure : E & BPIon Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy.
CellsAutophagy is affected in patients with hypokalemic periodic paralysis: an involvement in vacuolar myopathy?
Acta neuropathologica communicationsClinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations.
Neuromuscular disorders : NMDThe mechanism underlying transient weakness in myotonia congenita.
eLifeSodium channelopathies of skeletal muscle and brain.
Physiological reviewsPain as a significant symptom in patients with periodic paralysis-A cross-sectional survey.
Muscle & nerveEmergence and molecular characterization of pigeon Paramyxovirus-1 in non-native Eurasian collared doves (Streptopelia decaocto) in California, USA.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseasesExercise 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 NeurophysiologyNext-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients.
Neuromuscular disorders : NMDSkeletal muscle channelopathies: a guide to diagnosis and management.
Practical neurologyCo-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants.
Journal of clinical research in pediatric endocrinologyDistinctive facial features in Andersen-Tawil syndrome: A three-dimensional stereophotogrammetric analysis.
American journal of medical genetics. Part AThe clinical and genetic heterogeneity analysis of five families with primary periodic paralysis.
Channels (Austin, Tex.)[A novel mutation of SCN4A gene causes hypokalemic periodic paralysis in a Chinese family].
Zhonghua yi xue za zhiTargeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Journal of neuromuscular diseasesObstetric management of a patient with Andersen-Tawil syndrome: A case report.
The journal of obstetrics and gynaecology researchFamilial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance.
Brain & developmentRyanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
Skeletal muscleThe prevalence of hereditary neuromuscular disorders in Northern Norway.
Brain and behaviorMorphological Alterations of the Sarcotubular System in Permanent Myopathy of Hereditary Hypokalemic Periodic Paralysis with a Mutation in the CACNA1S Gene.
Journal of neuropathology and experimental neurologyGenome-wide meta-analysis reveals novel susceptibility loci for thyrotoxic periodic paralysis.
European journal of endocrinologyCACNA1S Arg528Cys mutation in a young Chinese man with thyrotoxic hypokalemic periodic paralysis.
Clinical case reports[Hypokalemic periodic paralysis: a systematic review of published case reports].
Revista de neurologiaAndersen-Tawil Syndrome with High Risk of Sudden Cardiac Death in Four Mexican Patients. Cardiac and Extra-Cardiac Phenotypes.
Revista de investigacion clinica; organo del Hospital de Enfermedades de la NutricionPrimary Hypokalemic Periodic Paralysis: Long-term Management and Complications in a Child.
Journal of pediatric neurosciencesIdentification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing.
The Journal of international medical researchSuccessful treatment of arrhythmia with β-blocker and flecainide combination in pregnant patients with Andersen-Tawil syndrome: A case report and literature review.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, IncVacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis.
Journal of neuropathology and experimental neurologyAndersen-Tawil Syndrome: A Comprehensive Review.
Cardiology in reviewClinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.
Frontiers in neurologyAssociation study in Mexican patients with thyrotoxic hypokalemic periodic paralysis.
Biomedical reportsSkeletal Muscle Channelopathies.
Neurologic clinicsMutation spectrum and health status in skeletal muscle channelopathies in Japan.
Neuromuscular disorders : NMDAn unusual case of recurrent episodes of muscle weakness: Co-occurrence of Andersen-Tawil syndrome and glycogen storage disease type IXd.
Neuromuscular disorders : NMDImproving genetic diagnostics of skeletal muscle channelopathies.
Expert review of molecular diagnosticsManaging pregnancy and anaesthetics in patients with skeletal muscle channelopathies.
Neuromuscular disorders : NMDConcurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis.
Amyotrophic lateral sclerosis & frontotemporal degenerationFirst-Onset Hypokalemic Periodic Paralysis Following Surgery for Myxopapillary Ependymoma.
World neurosurgeryPermanent muscle weakness in hypokalemic periodic paralysis.
Neurology"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes.
Advances in genetics[Clinical and genetic analysis of a patient with Gitelman syndrome misdiagnosed as hypokalemic periodic paralysis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsA role for external Ca2+ in maintaining muscle contractility in periodic paralysis.
The Journal of general physiologyMyotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.
PloS oneA new clinical entity in T704M mutation in periodic paralysis.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia"Status myotonicus" in Nav1.4-M1592V channelopathy.
Neuromuscular disorders : NMDBK channel openers NS1619 and NS11021 reverse hydrogen peroxide-induced membrane potential changes in skeletal muscle.
Journal of receptor and signal transduction researchChanges of Resurgent Na+ Currents in the Nav1.4 Channel Resulting from an SCN4A Mutation Contributing to Sodium Channel Myotonia.
International journal of molecular sciencesAnalysis of the genetic background associated with sporadic periodic paralysis in Japanese patients.
Journal of the neurological sciencesFurther evidence for shared genetic susceptibility in both sporadic and Thyrotoxic periodic paralysis.
Journal of the neurological sciencesSkeletal muscle CaV1.1 channelopathies.
Pflugers Archiv : European journal of physiologyMyotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in SCN4A.
Frontiers in neurologyThe expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S.
Molecular genetics & genomic medicineIdentification of a novel PYGM mutation in a McArdle disease patient misdiagnosed as hypokalemic periodic paralysis.
Journal of endocrinological investigationPhenotypic variability in a series of four pediatric patients with Andersen-Tawil syndrome: A Saudi experience.
International journal of pediatrics & adolescent medicinePharmGKB summary: very important pharmacogene information for CACNA1S.
Pharmacogenetics and genomicsEpisodic Muscle Disorders.
Continuum (Minneapolis, Minn.)Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation.
Scientific reportsSCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review.
Frontiers in neurologyFunctional analysis of a double-point mutation in the KCNJ2 gene identified in a family with Andersen-Tawil syndrome.
Journal of the neurological sciencesA zebrafish model of nondystrophic myotonia with sodium channelopathy.
Neuroscience lettersGenetic Epidemiology Reveals 3 Chronic Reservoir Areas With Recurrent Population Mobility Challenging Poliovirus Eradication in Pakistan.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of AmericaA Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomalies.
Journal of neuromuscular diseasesElectromyographic Features in a Chinese Cohort With Hereditary Skeletal Muscle Channelopathies.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietyClinical and neurophysiological variability in Andersen-Tawil syndrome.
Muscle & nerveWhole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family.
Journal of pediatric endocrinology & metabolism : JPEM[Analysis of SCN4A gene variation in a Chinese pedigree affected with skeletal muscle sodium channelopathies].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsHypokalemic periodic paralysis due to CACNA1S gene mutation.
Neurosciences (Riyadh, Saudi Arabia)Contribution of Asian Haplotype of KCNJ18 to Susceptibility to and Ethnic Differences in Thyrotoxic Periodic Paralysis.
The Journal of clinical endocrinology and metabolismUsefulness of the intravenous flecainide challenge test before oral flecainide treatment in a patient with Andersen-Tawil syndrome.
BMJ case reportsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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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.
- The importance of comprehensive diagnostic work-up and genetic testing to reveal Andersen-Tawil syndrome-a case report.
- Case Report of Andersen-Tawil Syndrome: Rare Presentation of a Rare Disease.
- Novel CACNA1S Mutation c.3491 A>C in Hypokalemic Periodic Paralysis: First Report with Functional Validation.
- Sex determination and genetic screening of equine embryos with whole genome amplification and real-time PCR.
- Clinical features and advances in the genetics of periodic paralysis.
- Efficacy of a K(+) Channel Agonist, XEN1101, For Preserving Contractility in Mouse Models of Hypokalemic Periodic Paralysis.
- Efficacy of Retigabine in Treating Weakness in a Mouse Model of Hypokalemic Periodic Paralysis.
- Thyrotoxic Hypokalemic Periodic Paralysis: Pathophysiological Mechanisms.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:371433(Orphanet)
- MONDO:0000995(MONDO)
- GARD:21613(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1788314(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
