"Alternating hemiplegia"

Clinical Reasoning: Hyperventilation-Induced Alternating Hemiplegia With Concomitant Hemispheric EEG Slowing in a 7-Year-Old Girl With Headache. A 7-year-old right-handed girl presented to the pediatric neurology outpatient clinic after 5 episodes of headache over the previous 3 months. Her family history was positive for migraine in the mother and maternal grandmother and for febrile seizures

Alternating hemiplegia of childhood: An electroclinical study of sleep and hemiplegia. Alternating Hemiplegia of Childhood (AHC) is characterised by paroxysmal hemiplegic episodes and seizures. Remission of hemiplegia upon sleep is a clinical diagnostic feature of AHC. We investigated whether: 1) Hemiplegic events are associated with spectral EEG changes 2) Sleep in AHC is associated

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene. Alternating hemiplegia of childhood (AHC) is a rare neurodevelopment disorder that is typically characterized by debilitating episodic attacks of hemiplegia, seizures, and intellectual disability. Over 85% of individuals with AHC have a de novo missense variant in ATP1A3

Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia. Claudin-5 is the most enriched tight junction protein at the blood-brain barrier. Perturbations in its levels of expression have been observed across numerous neurological and neuropsychiatric conditions; however, pathogenic variants in the coding sequence of the gene have never been reported previously. Here, we report the identification of a novel de novo mutation (c.178G>A) in the CLDN5 gene in two unrelated cases of alternating hemiplegia with microcephaly. This mutation (G60R) lies within the first extracellular loop of claudin-5 and based on protein modelling and sequence alignment, we predicted it would modify claudin-5 to become an anion-selective junctional component

The epileptology of alternating hemiplegia of childhood. To report our experience and investigate 5 original hypotheses: (1) multiple types of epileptic seizures occur in alternating hemiplegia of childhood (AHC), and these can be the initial presentation; (2) epileptiform abnormalities often appear well after clinical seizures; (3) nonepileptic reduced awareness spells (RAS) occur frequently

ATP1A3 mosaicism in families with alternating hemiplegia of childhood. Alternating hemiplegia of childhood (AHC) is a rare and severe neurodevelopmental disorder characterized by recurrent hemiplegic episodes. Most AHC cases are sporadic and caused by de novo ATP1A3 pathogenic variants. In this study, the aim was to identify the origin of ATP1A3 pathogenic variants in a Chinese cohort. In 105

Cognitive, adaptive, and behavioral profiles and management of alternating hemiplegia of childhood. To determine the neuropsychological abnormalities that occur in alternating hemiplegia of childhood (AHC) and report on our experience in managing them. Patients underwent evaluations according to our standardized AHC pathway. Data were entered into our prospective AHC database and then analyzed , the most common being ADHD which responds to pharmacotherapy. Patients with alternating hemiplegia of childhood (AHC) have developmental difficulties with underlying neuropsychological impairments. The findings in this study are consistent with an underlying AHC pathophysiology which involves diffuse neuronal, probably largely GABAergic, dysfunction. Patients with AHC have a range of neuropsychiatric

[Genotype-phenotype correlation in patients with alternating hemiplegia of childhood]. To explore the correlation between ATP1A3 genotype and phenotype in children with alternating hemiplegia of childhood (AHC). This was a retrospective study. The clinical data and peripheral blood DNA of AHC patients were collected in Peking University First Hospital from August 2005 to December 2017. ATP1A3

Motor function domains in alternating hemiplegia of childhood. To characterize motor function profiles in alternating hemiplegia of childhood, and to investigate interrelationships between these domains and with age. We studied a cohort of 23 patients (9 males, 14 females; mean age 9y 4mo, range 4mo-43y) who underwent standardized tests to assess gross motor, upper extremity motor control, motor data establish a detailed profile of motor function in alternating hemiplegia of childhood, argue against the presence of worse motor function in older patients, identify tools helpful in evaluating this population, and identify oropharyngeal function as the more severely affected domain, suggesting that brain areas controlling this function are more affected than others.

More Than a Decade of Misdiagnosis of Alternating Hemiplegia of Childhood with Catastrophic Outcome Alternating hemiplegia of childhood (AHC) is a distinct clinical disorder characterized by recurrent episodes of hemiplegia, abnormal ocular movement, and progressive developmental delay. It is an extremely rare genetic disorder related to ATP1A3 gene mutations. In this paper, we present a case

Alternating hemiplegia of childhood: Clinical case and video description

A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood Based on the hypothesis of a brain energy deficit, we investigated the safety and efficacy of triheptanoin on paroxysmal episodes in patients with alternating hemiplegia of childhood due to ATP1A3 mutations. We conducted a randomized, double-blind, placebo-controlled crossover study of triheptanoin, at a target dose corresponding to 30% of daily calorie intake, in ten patients with alternating hemiplegia of childhood due to ATP1A3 mutations. Each treatment period consisted of a 12-week fixed-dose phase, separated by a 4-week washout period. The primary outcome was the total number of paroxysmal events. Secondary outcomes included the number of paroxysmal motor-epileptic events; a composite

Progressive Brain Atrophy in Alternating Hemiplegia of Childhood Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder that includes involuntary movements, paroxysmal symptoms, and various severities of nonparoxysmal symptoms. To investigate the occurrence of structural brain abnormalities in patients with AHC during clinical courses. Conventional brain magnetic

Oxygen as an Acute Treatment in Alternating Hemiplegia of Childhood Alternating hemiplegia of childhood (AHC) is a rare early-onset neurodevelopmental encephalopathy frequently caused by mutations in the ATP1A3 gene. It is typically characterized by a variable degree of intellectual disability, motor dysfunction and various paroxysmal events (dystonic and plegic attacks). Dystonic and plegic

Clinical outcomes of adult people with alternating hemiplegia of childhood (AHC): a systematic review PROSPERO International prospective register of systematic reviews Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. The registrant confirms that the information

De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis. Alternating hemiplegia of childhood (AHC) is a rare neurological disorder that manifests recurrent attacks of hemiplegia, oculogyric, and choreoathetotic involuntary movements. De novo mutations in ATP1A3 cause three types of neurological diseases

Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases. Mutations in the adenylate cyclase 5 (ADCY5) gene recently have been identified as the cause of a childhood-onset disorder characterized by persistent or paroxysmal choreic, myoclonic, and/or dystonic movements. The 2 novel mutations we identified expand the clinical spectrum of ADCY5 mutations to include alternating hemiplegia of childhood.

Deficits in social behavioral tests in a mouse model of alternating hemiplegia of childhood Social behavioral deficits have been observed in patients diagnosed with alternating hemiplegia of childhood (AHC), rapid-onset dystonia-parkinsonism and CAPOS syndrome, in which specific missense mutations in ATP1A3, encoding the Na(+), K(+)-ATPase α3 subunit, have been identified. To test the hypothesis

Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation Alternating hemiplegia of childhood is an intractable neurological disorder characterized by recurrent episodes of alternating hemiplegia accompanied by other paroxysmal symptoms. Recent research has identified mutations in the ATP1A3 gene as the underlying cause. Adenosine-5'-triphosphate has a vasodilatory effect, can enhance muscle strength and physical performance, and was hypothesized to improve the symptoms of paroxysmal hemiplegia. A 7-year-old boy with alternating hemiplegia of childhood who was positive for a de novo ATP1A3 mutation was treated with adenosine- 5'- triphosphate supplementation orally as an innovative therapy for 2 years. Outcome was evaluated through the follow-up

Alternating Hemiplegia of Childhood in a Child Misdiagnosed as Intractable Epilepsy