Disease: Alternating hemiplegia of childhood
- <em>ATP1A3</em>-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia
- A Case of Suspected Radiation-Induced Meningioma That Developed 36 Years after Radiotherapy for a Suprasellar Tumor
- A case report of atypical hemiplegic migraine with nonheadache onset in a Chinese child
- A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients
- A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia
- A novel presentation of an ATP1A3 gene mutation - case report and literature review
- A Rare Cause of Recurrent Febrile Encephalopathy in a Child: The Expanding Spectrum of ATP1A3 Mutations
- Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3(Mashl/+), Mouse Model of Alternating Hemiplegia of Childhood
- Adverse motor outcome after paediatric ischaemic stroke: A nationwide cohort study
- Alternating hemidystonia of childhood: a unique presentation of ATP1A3 treated with trihexyphenidyl
- Alternating hemiplegia of childhood
- Alternating Hemiplegia of Childhood associated with a pathogenic variant of the ATP1A3 gene
- Alternating Hemiplegia of Childhood associated with a pathogenic variant of the ATP1A3 gene
- Alternating Hemiplegia of Childhood Caused by ATP1A3 Mutations: A Report of Two Cases
- Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review
- Alternating hemiplegia of childhood presenting as recurrent apnoea in a term newborn infant
- Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review
- Alternating Hemiplegia of Childhood: A Series of Genetically Confirmed Four Cases from Southern India with Review of Published Literature
- Alternating hemiplegia of childhood: An electroclinical study of sleep and hemiplegia
- Alternating hemiplegia of childhood: evolution over time and mouse model corroboration
- Alternating Hemiplegia of Childhood: Genotype-Phenotype Correlations in a Cohort of 39 Italian Patients
- Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability
- Alternating hemiplegia with epilepsy
- An 88.8-kb Novel Deletion of 19q13.2 Encompassing the <em>ATP1A3</em> Gene Detected by Array CGH in a Patient with Delayed Psychomotor Development, Generalized Hypotonia and Macrocephaly
- Anesthetic Implications in Alternating Hemiplegia of Childhood: A Case Report
- ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria
- ATP1A3 regulates protein synthesis for mitochondrial stability under heat stress
- ATP1A3-related disorders in the differential diagnosis of acute brainstem and cerebellar dysfunction
- ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum
- ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report
- ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA
- ATP1A3-Related Relapsing Encephalopathy with Cerebellar Ataxia (RECA): A Genetic Disorder with an Inflammatory Basis?
- Autonomic risks in Alternating Hemiplegia of Childhood
- Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder
- Brain structural changes in alternating hemiplegia of childhood using single-case voxel-based morphometry analysis
- Case Report and Literature Review: COVID-19 and status epilepticus in Dyke-Davidoff-Masson syndrome
- Case report: A novel loss-of-function pathogenic variant in the KCNA1 cytoplasmic N-terminus causing carbamazepine-responsive type 1 episodic ataxia
- Cation leak through the ATP1A3 pump causes spasticity and intellectual disability
- Characteristics of non-sleep related apneas in children with alternating hemiplegia of childhood
- Characterization of sedation and anesthesia complications in patients with alternating hemiplegia of childhood
- Childhood strokes in China describing clinical characteristics, risk factors and performance indicators: a case-series study
- Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis
- De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene-disease relationship and variant classification: a case report
- De novo ATP1A3 variants cause polymicrogyria
- De novo mutations in CLDN5: alternating hemiplegia of childhood or not?
- Development and testing of methods to record and follow up spells in patients with alternating hemiplegia of childhood
- Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family
- Disease mutations of human α3 Na<sup>+</sup>/K<sup>+</sup>-ATPase define extracellular Na<sup>+</sup> binding/occlusion kinetics at ion binding site III
- Dyke-Davidoff-Masson Syndrome: A Case Report
- Dyke-davidoff-masson syndrome: A case report of an adolescent boy at a tertiary hospital in Adamawa, North-Eastern Nigeria
- Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations
- Effect of Flunarizine on Alternating Hemiplegia of Childhood in a Patient with the p.E815K Mutation in ATP1A3: A Case Report
- Effect of Flunarizine on Recurrent Status Epilepticus in a Patient with Alternating Hemiplegia of Childhood
- Effect of Oxygen Administration on Paroxysmal Motor Events in Alternating Hemiplegia of Childhood
- Epilepsy with eyelid myoclonia in the setting of de novo pathogenic variant in ATP1A3
- Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
- Expanding Phenotype of <em>ATP1A3</em> - Related Disorders: A Case Series
- Exploring demographic, medical, and developmental determinants of adaptive behaviour in children with hemiplegic cerebral palsy
- Fever, Seizures and Encephalopathy: From Bush Fires to Firestorms
- Genetically altered animal models for ATP1A3-related disorders
- Hemidystonia with polymicrogyria is part of ATP1A3-related disorders
- Hypothalamic-pituitary dysfunction in alternating hemiplegia of childhood
- In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism
- International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions
- Intracerebral Haemorrhage: A Rare Presentation of Phaeochromocytoma
- Intravenous Immunoglobulin in the Treatment of Alternating Hemiplegia of Childhood
- Is ethyl chloride the new nitrous oxide? A case report
- Is the Early Diagnosis of Pediatric Stroke Possible in the Emergency Department?
- Long-Term Follow-Up of a Patient with a De Novo p.Arg769Cys Mutation in the <em>ATP1A3</em> Gene
- Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease
- Molecular and clinical characteristics of <em>ATP1A3</em>-related diseases
- MR vessel wall enhancement in a pediatric focal cerebral arteriopathy
- Navigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review
- Neurological features related to influenza virus in the pediatric population: a 3-year monocentric retrospective study
- Non-Stationary Outcome of Alternating Hemiplegia of Childhood into Adulthood
- Normalizing step-to-step variability to age in children and adolescents with hemiplegia
- Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence
- Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother
- Oxygen Therapy: An Acute Treatment for Paroxysmal Dystonia in Alternating Hemiplegia of Childhood?
- Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population
- Primary mechanical thrombectomy for anterior circulation stroke in children: Report of two cases and literature review
- Professor WU Xu's clinical experience of acupuncture for alternating hemiplegia of childhood
- Progression of alternating hemiplegia of childhood-related focal epilepsy to electrical status epilepticus in sleep with reversible encephalopathy
- Rapid-onset dystonia-parkinsonism with ATP1A3 mutation and left lower limb paroxysmal dystonia
- Rare. The importance of research, analysis, reporting and education in 'solving' the genetic epilepsies: A perspective from the European patient advocacy group for EpiCARE
- Real life retrospective study of cannabidiol therapy in alternating hemiplegia of childhood
- Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia
- Reply: De novo mutations in CLDN5: alternating hemiplegia of childhood or not?
- Revision of the diagnostic criteria of alternating hemiplegia of childhood
- RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood
- School-age outcomes of children after perinatal brain injury: a systematic review and meta-analysis
- Teaching Video NeuroImage: Oculomotor Abnormalities in Patients With Alternating Hemiplegia of Childhood
- The CLDN5 gene at the blood-brain barrier in health and disease
- The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients
- The impact of Transcranial Magnetic Stimulation (TMS) on seizure course in people with and without epilepsy
- The Phenotypic Continuum of <em>ATP1A3</em>-Related Disorders
- The Profile of Epilepsy and its characteristics in Children with Cerebral Palsy
- Utilizing real-world evidence to investigate treatments in alternating hemiplegia of childhood: Implications for future trials in rare disease
- Variable Phenotypes in Alternating Hemiplegia of Childhood: A Genetically Proven Case Series
- Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review