Uma condição neurológica rara caracterizada por crises repetidas de paralisia em um lado do corpo e distúrbios súbitos, que também vêm com um atraso persistente no desenvolvimento e dificuldades de aprendizado e raciocínio.
Introdução
O que você precisa saber de cara
Uma condição neurológica rara caracterizada por crises repetidas de paralisia em um lado do corpo e distúrbios súbitos, que também vêm com um atraso persistente no desenvolvimento e dificuldades de aprendizado e raciocínio.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 48 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 103 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. Padrão de herança: Autosomal dominant, Not applicable.
Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:20477940, PubMed:26690923, PubMed:28032905, PubMed:28424515, PubMed:7521911, PubMed:8123008). Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion (PubMed:20477940). Mediates Cl(-) flux that is not coupled to amino acid transport; this avo
Cell membrane
Episodic ataxia 6
A disorder characterized by episodic ataxia, seizures, migraine and alternating hemiplegia.
Nuclear receptor that lacks a DNA-binding domain and acts as a corepressor that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions (PubMed:12482977, PubMed:32433991). Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis (PubMed:7990953, PubMed:8675564). May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency (By similarity)
NucleusCytoplasm
Adrenal hypoplasia, congenital
A disorder of adrenal gland development characterized by absence of the permanent zone of the adrenal cortex, structural disorganization of the adrenal glands, adrenal insufficiency and profound hormonal deficiencies. AHC patients manifest primary adrenal failure usually in early infancy, and hypogonadotropic hypogonadism leading to absent or incomplete sexual maturation. AHC can be inherited in an X-linked or autosomal recessive pattern.
Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake (PubMed:10227690, PubMed:10954735, PubMed:18245775, PubMed:19449892, PubMed:25982116, PubMed:27078104, PubMed:32860739). Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses (PubMed:18245775, PubMed:19449892). Most important energy carrier of the brain: present at the blood-brain barrier and assures the energy-independent, facilitative trans
Cell membraneMelanosomePhotoreceptor inner segment
GLUT1 deficiency syndrome 1
A neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe intellectual disability.
This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients
MembraneCell membrane
Migraine, familial hemiplegic, 2
A subtype of migraine with aura associated with hemiparesis in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking.
This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients
Cell membrane
Dystonia 12
An autosomal dominant dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability.
Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:1325650, PubMed:17021166, PubMed:28256214, PubMed:29844171). Implicated in the regulation of hippocampal replay occurring within sharp wave ripples (SPW-R) important for memory (By simi
Cell membrane
Seizures, benign familial infantile, 3
A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS3 inheritance is autosomal dominant.
Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are specifically blocked by the spider omega-agatoxin-IVA
Cell membrane
Spinocerebellar ataxia 6
Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder.
Regulator of cell proliferation and apoptosis (PubMed:21801820). It likely functions as a substrate-adapter that recruits key substrates, e.g. MSI2, to CUL3-based ubiquitin ligase complexes for degradation (PubMed:15107402, PubMed:27941885). Required for MSI2 ubiquitination and degradation (PubMed:27941885)
Developmental and epileptic encephalopathy 64
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE64 is an autosomal dominant form characterized by onset of seizures usually in the first year of life. Seizure types are variable and include focal dyscognitive and generalized tonic-clonic seizures, as well as febrile seizures in the mildest affected individuals. Seizures tend to respond to medical treatment.
Medicamentos e terapias
Mecanismo: GABA-B receptor agonist
Mecanismo: GABA-B receptor agonist
Variantes genéticas (ClinVar)
895 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 356 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
28 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 — Hemiplegia alternante da infância
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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
Pesquisa e ensaios clínicos
8 ensaios clínicos encontrados.
Publicações mais relevantes
Parallels between bipolar disorder and ATP1A3-related diseases: a window into the investigation of lithium for alternating hemiplegia of childhood.
Alternating hemiplegia of childhood (AHC) shares many aspects with the psychiatric condition, bipolar disorder. AHC is a heterogeneous genetic disorder that can manifest in various fashions but will usually involve paroxysmal neuropsychiatric symptoms that are precipitated by environmental events or stressors, superimposed over developmental abnormalities of various severities. It occurs as a consequence of a variety of mutations of the alpha3 subunit of the sodium pump (ATP1A3). Treatment is generally symptomatic with flunarizine a nonselective calcium channel blocker, but other approaches have been attempted. Nonetheless, given the inadequate response of most patients, there continues to be a significant unmet need for adequate treatment approaches. Bipolar disorder, a severe psychiatric illness, also manifests with paroxysmal neuropsychiatric symptoms that are precipitated by environmental events or stressors. It is also characterized by significant dysfunction of the sodium pump. Lithium is an effective intervention for bipolar disorder and has never been utilized in AHC. Both bipolar disorder and AHC are associated with sodium pump dysfunction and increased intracellular sodium concentration. Both conditions respond to calcium channel blockers and the ketogenic diet. Lithium trials in AHC are warranted.
Characterization of Sleep in Alternating Hemiplegia of Childhood: An International Survey.
Few studies have investigated sleep features in people with alternating hemiplegia of childhood (AHC). In this study, we present a bespoke survey of individuals with AHC to characterize sleep disturbances in this condition. A cross-sectional survey was disseminated through the UK and Italian AHC family associations, addressing their registered families with at least 1 child or adult with a confirmed diagnosis of AHC by their national reference centers and who had consented to be contacted by email. The entire questionnaire implemented in the online surveys was organized into 3 main sections and included the Pittsburgh Sleep Quality Index (PSQI) scale. This scale ranges from 0 to 21, with higher scores indicating poorer sleep quality. Internal consistency of the questionnaire was assessed using Cronbach alpha statistic. Forty-eight of 54 families with AHC (88.89%) filled out at least 1 item of the AHC-Sleep Questionnaire, and 36 of 54 (66.67%) completed the whole questionnaire. Eighteen of 44 people (40.91%) from our cohort reported having a problem with sleep, which was persistent for 10 of 44 (22.7%). Twenty-five of 44 people (56.82%) reported multiple arousals during a typical night, and for 9 of 25 (36%), these could be very prolonged. For 16 of 40 (40%) and 19 of 40 (47.5%), plegic spells resolved or improved, respectively, during sleep, whereas 5 of 40 (12.5%) reported no effect of sleep on these spells. The mean global PSQI score in 40 people was 5.40 (SD ± 4.69). Fifteen of 40 individuals (37.5%) had a global PSQI score ≥5. PSQI scores were significantly higher in those individuals who completed the questionnaire during summer (n = 6) compared with those who completed them during winter (n = 33) (p = 0.011, Mann-Whitney test). We found a strong correlation between AHC paroxysmal spell burden and PSQI score (Spearman r = 0.39, p < 0.01). The survey demonstrated a high degree of internal consistency, with a Cronbach alpha of 0.88 (95% CI 0.83-0.91). We dissected sleep issues and reported sleep disruption, including elevated global PSQI scores, in a significant proportion of individuals with AHC. The main implication of this study is the importance of conducting comprehensive and regular assessments of sleep in both children and adults with AHC.
The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients.
ATP1A3-related disorders are characterized by genetic heterogeneity and phenotypic pleiotropy, posing significant challenges for classification. Although canonical phenotypes have traditionally guided decision-making, increasing evidence highlights their limitations in capturing the clinical complexity. The aims of this study were to characterize movement disorders, paroxysmal features, and genotype-phenotype relationships; to build a curated video archive; and to assess alignment with canonical phenotypes. This is an observational study of 88 individuals with pathogenic or likely pathogenic variants in ATP1A3 who were evaluated in specialized movement disorders programs. Age at last clinical follow-up ranged from 0.1 to 63 years; 80.7% were pediatric patients. Chronic movement disorders were present in 68 of 88 individuals (75%); most had two or more coexisting phenomenologies. Dystonia was most common (47/88, 53%), followed by spasticity (28/88, 32%) and ataxia (28/92, 32%). Paroxysmal events occurred in 78 of 88 (88%) patients, including dystonic spells (45/78, 58%), abnormal eye movements (39/78, 50%), and hemiplegic episodes (37/78, 47%). Common comorbidities included epilepsy (21/88, 24%), cognitive impairment (41/88, 47%), and neuropsychiatric disorders. Only 22 of 88 (25%) fulfilled criteria for a single canonical phenotype; 28 of 88 (32%) met canonical criteria plus additional features, 18 of 88 (20%) satisfied criteria for ≥2 canonical phenotypes, and 20 of 88 (23%) fit no canonical category. We identified 43 distinct ATP1A3 variants; recurrent variants (eg, p.Arg756His, p.Asp801Asn, p.Glu818Lys) showed variable expressivity across categories. The extensive clinical heterogeneity in ATP1A3-related disorders challenges rigid phenotypic classifications. The predominance of patients with overlapping or atypical features supports a shift toward flexible, symptom-based clinical approaches rather than strict reliance on canonical phenotype recognition. © 2026 International Parkinson and Movement Disorder Society.
Unraveling Alternating Hemiplegia of Childhood: A Case Report with Genetic and Clinical Insights.
Alternating hemiplegia of childhood (AHC) is a complex neurological disorder comprising paroxysmal episodes of repeated, transient paresis involving either or both sides of the body, with onset usually before the age of 18 months. The etiology is varied and includes channelopathy, mutations of the ATP1A3 gene that encode alpha subunit of the NA+-K+ ATPase pump. A 7-month-old girl presented with tonic neck deviation of the neck and eyes, episodic hemiparesis affecting both sides alternatively. Each episode resolved after sleep and was precipitated by hunger, fever, and sleep deprivation. Neurological examination and laboratory workup, including MRI and EEG, were normal. Whole-exome sequencing revealed a heterozygous de novo pathogenic mutation in the ATP1A3 gene (p.Asp801Asn), confirming AHC. She was started on flunarizine, a calcium channel blocker. Significant clinical improvement and catch-up in developmental milestones were observed on follow-up. AHC is frequently misdiagnosed due to its rarity and varied presentation. Diagnosis is clinical and supported by genetic testing. Mutations in ATP1A3 are common and often cluster at specific hotspots. Management includes symptomatic treatment and supportive care, with flunarizine offering some benefit. This case highlights the need for early recognition and genetic confirmation of AHC to initiate therapy and improve quality of life.
Alternating Hemiplegia of Childhood and ATP1A3-Related Diseases: Insights From a Decade of Discovery and Collaboration.
This report presents key insights from the 2022 annual conference held in Edinburgh, commemorating the 10th anniversary of the discovery of ATP1A3 variants in alternating hemiplegia of childhood (AHC). This milestone event marked a decade of rapid advancements in research and clinical understanding, bringing together international experts and those with lived experience to reflect on progress, identify ongoing challenges, and shape the future of ATP1A3-related disease research. Over the past 10 years, our knowledge of ATP1A3-related diseases has expanded significantly, revealing a broader clinical spectrum, complex genotype-phenotype correlations, and novel pathophysiologic mechanisms. This symposium provided new data on cardiac and respiratory involvement in AHC, the impact of Na+, K+-ATPase dysfunction on neurodevelopment, and the evolving understanding of progressive disease trajectories. The conference also showcased emerging therapeutic strategies, including gene therapy, antisense oligonucleotides, and small-molecule interventions. This article synthesizes these discussions, offering a comprehensive overview of a decade of progress while highlighting the urgent need for continued collaboration. By integrating research, clinical expertise, and lived experience advocacy, the ATP1A3 community is paving the way for improved diagnosis, enhanced care, and the development of targeted treatments for these ultra-rare conditions.
Publicações recentes
D801N in ATP1A3-encoded Na/K-ATPase alpha 3 causes cardiac arrhythmogenesis through sodium-calcium exchanger-mediated calcium overload.
📖 RevisãoThe Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients.
Parallels between bipolar disorder and ATP1A3-related diseases: a window into the investigation of lithium for alternating hemiplegia of childhood.
CAPOS and Beyond: ATP1A3 Variants in Pediatric Movement Disorders - Case Reports.
📖 RevisãoCharacterization of Sleep in Alternating Hemiplegia of Childhood: An International Survey.
📖 Revisão📚 EuropePMC244 artigos no totalmostrando 197
The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients.
Movement disorders : official journal of the Movement Disorder SocietyParallels between bipolar disorder and ATP1A3-related diseases: a window into the investigation of lithium for alternating hemiplegia of childhood.
Orphanet journal of rare diseasesCAPOS and Beyond: ATP1A3 Variants in Pediatric Movement Disorders - Case Reports.
Molecular syndromologyCharacterization of Sleep in Alternating Hemiplegia of Childhood: An International Survey.
Neurology. GeneticsPaediatric retinal dystrophy associated with ATP1A3 in a child with a background of alternating hemiplegia of childhood.
Ophthalmic geneticsUnraveling Alternating Hemiplegia of Childhood: A Case Report with Genetic and Clinical Insights.
Case reports in neurologyKetogenic diet for alternating hemiplegia of childhood: Case report and literature review.
MedicineAlternating Hemiplegia of Childhood and ATP1A3-Related Diseases: Insights From a Decade of Discovery and Collaboration.
Neurology. GeneticsClinical Improvement in a Case of Alternating Hemiplegia of Childhood After Cerebral Lymphatic Drainage.
International medical case reports journalAssociation of alcohol responsiveness and non-motor symptoms in isolated adult-onset dystonia.
Journal of neurologyIn vivo prime editing rescues alternating hemiplegia of childhood in mice.
CellADCY5-Mosaic Variants: A Diagnosis Not to Be Missed.
Movement disorders clinical practiceEnhanced amygdala inhibitory neurotransmission and its vulnerability to hyperthermic stress in Atp1a2-deficient heterozygous mice.
Journal of neurophysiologyAlternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice.
Neurobiology of diseasePractical management of repeated life-threatening status epilepticus in Alternating Hemiplegia of Childhood: Case report and literature review.
Epileptic disorders : international epilepsy journal with videotapeThe Vodka Trial: Clinical and Genetic Characteristics of Alcohol Responsiveness in Laryngeal Dystonia.
Movement disorders clinical practiceUnusual Phenotypic Variability in Paroxysmal Dystonia Associated with Rare ATP1A3 Mutation: A Case Report and Review.
Journal of child neurologyPediatric paroxysmal movement disorders - A clinical epidemiological study in an Irish cohort.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias.
JAMA pediatricsCritical Events in Patients With Alternating Hemiplegia of Childhood: A Cohort Study Subgroup Analysis.
AANA journalOral ATP treatment in alternating hemiplegia of childhood: a case report and review.
Frontiers in medicineImperatives and co-benefits of research into climate change and neurological disease.
Nature reviews. NeurologyProgressive central cardiorespiratory rate downregulation and intensifying epilepsy lead to sudden unexpected death in epilepsy in mouse model of the most common human ATP1A3 mutation.
EpilepsiaAlternating hemiplegia of childhood: challenges in a changing climate.
Nature reviews. NeurologyNovel mouse model of alternating hemiplegia of childhood exhibits prominent motor and seizure phenotypes.
Neurobiology of diseaseOpsoclonus in Alternating Hemiplegia of Childhood Secondary to ATP1A3 p.Gly803Arg.
Movement disorders clinical practiceDeep brain stimulation for severe dystonia associated with Wilson disease: A prospective multicenter meta-analysis of an N-of-1 trial.
European journal of neurologyA case of alternating hemiplegia in 2-month-old children with nystagmus as the first symptom: A case report.
MedicineUse of Botulinum Toxin in Upper-Limb Tremor: Systematic Review and Perspectives.
ToxinsChildren and Adolescent Patients with Variants in the ATP1A3 -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction.
medRxiv : the preprint server for health sciencesEpilepsy with eyelid myoclonia in a patient with ATP1A3-related neurologic disorder.
Epileptic disorders : international epilepsy journal with videotapeIn vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.
Frontiers in neurosciencePhenotype Distinctions in Mice Deficient in the Neuron-Specific α3 Subunit of Na,K-ATPase: Atp1a3tm1Ling/+ and Atp1a3 +/D801Y.
eNeuroNavigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review.
Rambam Maimonides medical journalAlternating hemidystonia of childhood: a unique presentation of ATP1A3 treated with trihexyphenidyl.
Journal of neurologyIs ethyl chloride the new nitrous oxide? A case report.
BMC neurologyATP1A3 regulates protein synthesis for mitochondrial stability under heat stress.
Disease models & mechanismsUtilizing real-world evidence to investigate treatments in alternating hemiplegia of childhood: Implications for future trials in rare disease.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyTeaching Video NeuroImage: Oculomotor Abnormalities in Patients With Alternating Hemiplegia of Childhood.
NeurologyReal life retrospective study of cannabidiol therapy in alternating hemiplegia of childhood.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyAlternating hemiplegia of childhood misdiagnosed as hysteria: a case report.
Acta epileptologicaChildhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis.
Genes & genomicsExome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
European journal of human genetics : EJHGCharacteristics of non-sleep related apneas in children with alternating hemiplegia of childhood.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyAlternating hemiplegia of childhood.
Handbook of clinical neurologyNovel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence.
American journal of medical genetics. Part AMethodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease.
Journal of child neurologyEffect of Flunarizine on Recurrent Status Epilepticus in a Patient with Alternating Hemiplegia of Childhood.
Indian journal of pediatricsPrecision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population.
Molecular genetics & genomic medicineBrain structural changes in alternating hemiplegia of childhood using single-case voxel-based morphometry analysis.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceDevelopment and testing of methods to record and follow up spells in patients with alternating hemiplegia of childhood.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyEffect of Oxygen Administration on Paroxysmal Motor Events in Alternating Hemiplegia of Childhood.
Movement disorders : official journal of the Movement Disorder SocietyEpilepsy with eyelid myoclonia in the setting of de novo pathogenic variant in ATP1A3.
Epileptic disorders : international epilepsy journal with videotapeThe clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients.
Brain & developmentCation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Brain : a journal of neurologyThe CLDN5 gene at the blood-brain barrier in health and disease.
Fluids and barriers of the CNSDe novo mutations in CLDN5: alternating hemiplegia of childhood or not?
Brain : a journal of neurologyOxygen Therapy: An Acute Treatment for Paroxysmal Dystonia in Alternating Hemiplegia of Childhood?
Movement disorders : official journal of the Movement Disorder SocietyA novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia.
Molecular genetics & genomic medicineRare. The importance of research, analysis, reporting and education in 'solving' the genetic epilepsies: A perspective from the European patient advocacy group for EpiCARE.
European journal of medical geneticsATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.
European journal of pediatricsATP1A3-Related Relapsing Encephalopathy with Cerebellar Ataxia (RECA): A Genetic Disorder with an Inflammatory Basis?
Movement disorders clinical practiceDisease mutations of human α3 Na+/K+-ATPase define extracellular Na+ binding/occlusion kinetics at ion binding site III.
PNAS nexusBoth Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder.
Movement disorders : official journal of the Movement Disorder SocietyThe Phenotypic Continuum of ATP1A3-Related Disorders.
NeurologyAlternating hemiplegia of childhood: An electroclinical study of sleep and hemiplegia.
PloS oneATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report.
Brain & developmentMolecular and clinical characteristics of ATP1A3-related diseases.
Frontiers in neurologyAlternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.
MedicineAnesthetic Implications in Alternating Hemiplegia of Childhood: A Case Report.
AANA journalThe impact of Transcranial Magnetic Stimulation (TMS) on seizure course in people with and without epilepsy.
Clinical neurophysiology practiceRecurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia.
Brain : a journal of neurologyHemidystonia with polymicrogyria is part of ATP1A3-related disorders.
Brain & development[Alternating Hemiplegia of Childhood associated with a pathogenic variant of the ATP1A3 gene].
Andes pediatrica : revista Chilena de pediatriaAutonomic risks in Alternating Hemiplegia of Childhood.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyCharacterization of sedation and anesthesia complications in patients with alternating hemiplegia of childhood.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyA novel presentation of an ATP1A3 gene mutation - case report and literature review.
European review for medical and pharmacological sciencesAlternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.
Italian journal of pediatricsNon-Stationary Outcome of Alternating Hemiplegia of Childhood into Adulthood.
Movement disorders clinical practiceA Rare Cause of Recurrent Febrile Encephalopathy in a Child: The Expanding Spectrum of ATP1A3 Mutations.
CureusAlternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review.
NeuropediatricsProgression of alternating hemiplegia of childhood-related focal epilepsy to electrical status epilepticus in sleep with reversible encephalopathy.
Epileptic disorders : international epilepsy journal with videotapeDifferent phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyLong-Term Follow-Up of a Patient with a De Novo p.Arg769Cys Mutation in the ATP1A3 Gene.
Movement disorders clinical practiceExpanding Phenotype of ATP1A3 - Related Disorders: A Case Series.
Child neurology openGenetically altered animal models for ATP1A3-related disorders.
Disease models & mechanismsATP1A3-related disorders in the differential diagnosis of acute brainstem and cerebellar dysfunction.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia.
Journal of the American Heart AssociationVariable Phenotypes in Alternating Hemiplegia of Childhood: A Genetically Proven Case Series.
Annals of Indian Academy of NeurologyAn 88.8-kb Novel Deletion of 19q13.2 Encompassing the ATP1A3 Gene Detected by Array CGH in a Patient with Delayed Psychomotor Development, Generalized Hypotonia and Macrocephaly.
Molecular syndromologyAlternating hemiplegia of childhood: evolution over time and mouse model corroboration.
Brain communicationsVariants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.
Molecular genetics & genomic medicineAlternating Hemiplegia of Childhood Caused by ATP1A3 Mutations: A Report of Two Cases.
Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chihA case report of atypical hemiplegic migraine with nonheadache onset in a Chinese child.
BMC neurologyAlternating Hemiplegia of Childhood: A Series of Genetically Confirmed Four Cases from Southern India with Review of Published Literature.
Journal of pediatric geneticsRevision of the diagnostic criteria of alternating hemiplegia of childhood.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyAlternating Hemiplegia of Childhood: Genotype-Phenotype Correlations in a Cohort of 39 Italian Patients.
Frontiers in neurologyATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Brain : a journal of neurologyATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.
Frontiers in neurology[Alternating hemiplegia with epilepsy].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaDe novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene-disease relationship and variant classification: a case report.
BMC medical genomicsDe novo ATP1A3 variants cause polymicrogyria.
Science advancesHypothalamic-pituitary dysfunction in alternating hemiplegia of childhood.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyAlternating hemiplegia of childhood presenting as recurrent apnoea in a term newborn infant.
Annals of the Academy of Medicine, SingaporeNovel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyA novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyAdeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3Mashl/+, Mouse Model of Alternating Hemiplegia of Childhood.
Human gene therapy[Professor WU Xu's clinical experience of acupuncture for alternating hemiplegia of childhood].
Zhongguo zhen jiu = Chinese acupuncture & moxibustionRHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.
NeurologyEarly onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations.
Epilepsy & behavior : E&BRapid-onset dystonia-parkinsonism with ATP1A3 mutation and left lower limb paroxysmal dystonia.
Brain & developmentIntravenous Immunoglobulin in the Treatment of Alternating Hemiplegia of Childhood.
Clinical neuropharmacologyEffect of Flunarizine on Alternating Hemiplegia of Childhood in a Patient with the p.E815K Mutation in ATP1A3: A Case Report.
Case reports in neurologyGross Motor Function Disorders in Patients with Alternating Hemiplegia of Childhood.
Journal of mother and childCharacterization of Severe and Extreme Behavioral Problems in Patients With Alternating Hemiplegia of Childhood.
Pediatric neurologyCardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.
NeurologyAlternating Hemiplegia of Childhood: gastrointestinal manifestations and correlation with neurological impairments.
Orphanet journal of rare diseasesComparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity.
Neurobiology of diseaseAlternating Hemiplegia of Childhood in Korea: a Case Report.
Journal of Korean medical scienceThe epileptology of alternating hemiplegia of childhood.
NeurologyMolecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood.
Molecular genetics and metabolism reportsLong-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2.
European journal of medical geneticsBrain volumetrics in alternating hemiplegia of childhood.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyNeuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype.
Neurobiology of diseaseMutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.
Gene[Alternating hemiplegia].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaAlternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations.
The application of clinical geneticsMovement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.
NeurologyNon-motor symptoms in movement disorders: more than meets the eye.
Developmental medicine and child neurologyMagnetic resonance imaging volumetric analysis in patients with Alternating hemiplegia of childhood: A pilot study.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyEpileptic encephalopathy with features of rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation.
Epileptic disorders : international epilepsy journal with videotapeSocial impairments in alternating hemiplegia of childhood.
Developmental medicine and child neurologyKetamine Infusion for Super Refractory Status Epilepticus in Alternating Hemiplegia of Childhood.
NeuropediatricsATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaWhite matter and cerebellar involvement in alternating hemiplegia of childhood.
Journal of neurologyClinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population.
Journal of clinical neurology (Seoul, Korea)Management of Alternating Hemiplegia of Childhood: A Review.
Pediatric neurologyRecurrent Episodes of Hypotonia, Encephalopathy, and Quadriparesis in a 3-Year-Old Female.
Clinical pediatricsA novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.
Brain : a journal of neurologyAlternating hemiplegia and paroxysmal torticollis caused by SCN4A mutation: A new phenotype?
NeurologyMonocular nystagmus in a patient with alternating hemiplegia of childhood.
NeurologyFactors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.
Neurobiology of diseaseFever-related ataxia: a case report of CAPOS syndrome.
Cerebellum & ataxiasRevising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing.
Movement disorders : official journal of the Movement Disorder SocietyPhysical Therapy for a Patient With Alternating Hemiplegia of Childhood: A Case Report.
Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy AssociationHeart rate variability in a patient with alternating hemiplegia.
Intractable & rare diseases researchAlternating Hemiplegia of Childhood in a Person of Malay Ethnicity with Diffusion Tensor Imaging Abnormalities.
Journal of movement disordersAn Option to Consider for Alternating Hemiplegia of Childhood: Aripiprazole.
Clinical neuropharmacologyATP1A3 mosaicism in families with alternating hemiplegia of childhood.
Clinical geneticsRelapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyAlternating hemiplegia of childhood: First South African case report and verapamil as a possible treatment option.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskundeBiallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
European journal of medical geneticsA recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing.
Boletin medico del Hospital Infantil de MexicoHomozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood-Expanding the Phenotype of a Recently Reported Condition.
NeuropediatricsPolysomnography Findings and Sleep Disorders in Children With Alternating Hemiplegia of Childhood.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineAlternating Hemiplegia of Childhood in Two Adult Patients with a Mild Syndrome.
Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive NeurologyCell biology and dynamics of Neuronal Na+/K+-ATPase in health and diseases.
NeuropharmacologyAlternating hemiplegia of childhood: the gap between paroxysmal manifestations and non-paroxysmal characteristics.
Developmental medicine and child neurologyA novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.
Brain : a journal of neurologyA case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant.
Brain & development[Genotype-phenotype correlation in patients with alternating hemiplegia of childhood].
Zhonghua er ke za zhi = Chinese journal of pediatricsCognitive, adaptive, and behavioral profiles and management of alternating hemiplegia of childhood.
Developmental medicine and child neurologyComorbidities of Rare Epilepsies: Results from the Rare Epilepsy Network.
The Journal of pediatricsBenign nocturnal alternating hemiplegia of childhood: A clinical and nomenclatural reappraisal.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyNovel E815K knock-in mouse model of alternating hemiplegia of childhood.
Neurobiology of diseaseEarly Life Epilepsy and Episodic Apnea Revealing an ATP1A3 Mutation: Report of a Pediatric Case and Literature Review.
NeuropediatricsPearls & Oy-sters: Alternating hemiplegia of childhood mimics focal epilepsy and paroxysmal dyskinesia in infancy.
NeurologyDe novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.
Molecular genetics and metabolism reportsMissense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia.
Molecular psychiatryMechanisms of increased hippocampal excitability in the Mashl+/- mouse model of Na+ /K+ -ATPase dysfunction.
EpilepsiaEarly-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.
Brain & developmentVariants in the ATP1A3 Gene Mutations within Severe Apnea Starting in Early Infancy: An Observational Study of Two Cases with a Possible Relation to Epileptic Activity.
NeuropediatricsFurther characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report.
Brain & developmentAlternating hemiplegia of childhood: Clinical case and video description.
Neurology. Clinical practiceClinical Benefit of NMDA Receptor Antagonists in a Patient With ATP1A2 Gene Mutation.
PediatricsDirect evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood.
Neurobiology of diseaseChildhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.
Cerebellum (London, England)ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyRecurrent Focal Seizures and Transient Hemiparesis: Think About Alternating Hemiplegia of Childhood.
Pediatric neurologyATP1A3-related epileptic encephalopathy responding to ketogenic diet.
Brain & developmentThe CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Human geneticsATP1A3-related disorders: An update.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyLong-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene.
Brain & developmentA de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever.
Brain & developmentDisruption of Ankyrin B and Caveolin-1 Interaction Sites Alters Na+,K+-ATPase Membrane Diffusion.
Biophysical journalA randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood.
Orphanet journal of rare diseasesMore Than a Decade of Misdiagnosis of Alternating Hemiplegia of Childhood with Catastrophic Outcome.
Case reports in medicine[Diagnosis of alternating hemiplegia of childhood].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics[Alternating hemiplegia of childhood and epilepsy in an infant].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsAn Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.
Pediatric neurologyAssessment of acute motor deficit in the pediatric emergency room.
Jornal de pediatriaATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities.
Journal of the neurological sciencesFever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.
Pediatric neurologyAlternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations.
Epileptic disorders : international epilepsy journal with videotapeChallenges describing motor profiles in alternating hemiplegia of childhood.
Developmental medicine and child neurologyMotor function domains in alternating hemiplegia of childhood.
Developmental medicine and child neurologyTopiramate Therapy in Alternating Hemiplegia of Childhood.
Indian journal of pediatricsAssociações
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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.
- Parallels between bipolar disorder and ATP1A3-related diseases: a window into the investigation of lithium for alternating hemiplegia of childhood.
- Characterization of Sleep in Alternating Hemiplegia of Childhood: An International Survey.
- The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients.Movement disorders : official journal of the Movement Disorder Society· 2026· PMID 41850905mais citado
- Unraveling Alternating Hemiplegia of Childhood: A Case Report with Genetic and Clinical Insights.
- Alternating Hemiplegia of Childhood and ATP1A3-Related Diseases: Insights From a Decade of Discovery and Collaboration.
- D801N in ATP1A3-encoded Na/K-ATPase alpha 3 causes cardiac arrhythmogenesis through sodium-calcium exchanger-mediated calcium overload.
- CAPOS and Beyond: ATP1A3 Variants in Pediatric Movement Disorders - Case Reports.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2131(Orphanet)
- MONDO:0016241(MONDO)
- GARD:11(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q2632848(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