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Alternant hemiplegia

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https://www.readbyqxmd.com/read/29922587/-de-novo-atp1a3-and-compound-heterozygous-nlrp3-mutations-in-a-child-with-autism-spectrum-disorder-episodic-fatigue-and-somnolence-and-muckle-wells-syndrome
#1
Alcy Torres, Catherine A Brownstein, Sahil K Tembulkar, Kelsey Graber, Casie Genetti, Robin J Kleiman, Kathleen J Sweadner, Chrystal Mavros, Kevin X Liu, Niklas Smedemark-Margulies, Kiran Maski, Edward Yang, Pankaj B Agrawal, Jiahai Shi, Alan H Beggs, Eugene D'Angelo, Sarah Hope Lincoln, Devon Carroll, Fatma Dedeoglu, William A Gahl, Catherine M Biggs, Kathryn J Swoboda, Gerard T Berry, Joseph Gonzalez-Heydrich
Complex phenotypes may represent novel syndromes that are the composite interaction of several genetic and environmental factors. We describe an 9-year old male with high functioning autism spectrum disorder and Muckle-Wells syndrome who at age 5  years of age manifested perseverations that interfered with his functioning at home and at school. After age 6, he developed intermittent episodes of fatigue and somnolence lasting from hours to weeks that evolved over the course of months to more chronic hypersomnia...
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29895895/missense-variants-in-atp1a3-and-fxyd-gene-family-are-associated-with-childhood-onset-schizophrenia
#2
Boris Chaumette, Vladimir Ferrafiat, Amirthagowri Ambalavanan, Alice Goldenberg, Alexandre Dionne-Laporte, Dan Spiegelman, Patrick A Dion, Priscille Gerardin, Claudine Laurent, David Cohen, Judith Rapoport, Guy A Rouleau
Childhood-onset schizophrenia (COS) is a rare and severe form of schizophrenia defined as onset before age of 13. Here we report on two unrelated cases diagnosed with both COS and alternating hemiplegia of childhood (AHC), and for whom two distinct pathogenic de novo variants were identified in the ATP1A3 gene. ATP1A3 encodes the α-subunit of a neuron-specific ATP-dependent transmembrane sodium-potassium pump. Using whole exome sequencing data derived from a cohort of 17 unrelated COS cases, we also examined ATP1A3 and all of its interactors known to be expressed in the brain to establish if variants could be identified...
June 12, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29889309/mechanisms-of-increased-hippocampal-excitability-in-the-mashl-mouse-model-of-na-k-atpase-dysfunction
#3
Arsen S Hunanyan, Ashley R Helseth, Elie Abdelnour, Bassil Kherallah, Monisha Sachdev, Leeyup Chung, Melanie Masoud, Jordan Richardson, Qiang Li, J Victor Nadler, Scott D Moore, Mohamad A Mikati
OBJECTIVE: Na+ /K+ -ATPase dysfunction, primary (mutation) or secondary (energy crisis, neurodegenerative disease) increases neuronal excitability in the brain. To evaluate the mechanisms underlying such increased excitability we studied mice carrying the D801N mutation, the most common mutation causing human disease, specifically alternating hemiplegia of childhood (AHC) including epilepsy. Because the gene is expressed in all neurons, particularly γ-aminobutyric acid (GABA)ergic interneurons, we hypothesized that the pathophysiology would involve both pyramidal cells and interneurons and that fast-spiking interneurons, which have increased firing rates, would be most vulnerable...
June 11, 2018: Epilepsia
https://www.readbyqxmd.com/read/29861155/early-onset-encephalopathy-with-paroxysmal-movement-disorders-and-epileptic-seizures-without-hemiplegic-attacks-about-three-children-with-novel-atp1a3-mutations
#4
Pauline Marzin, Cyril Mignot, Nathalie Dorison, Louis Dufour, Dorothée Ville, Anna Kaminska, Eleni Panagiotakaki, Anne-Sophie Dienpendaele, Marie-José Penniello, Marie-Christine Nougues, Boris Keren, Christel Depienne, Caroline Nava, Mathieu Milh, Laurent Villard, Christian Richelme, Clotilde Rivier, Sandra Whalen, Delphine Heron, Gaëtan Lesca, Diane Doummar
OBJECTIVE: Heterozygous mutations in the ATP1A3 gene are responsible for various neurological disorders, ranging from early-onset alternating hemiplegia of childhood to adult-onset dystonia-parkinsonism. Next generation sequencing allowed the description of other phenotypes, including early-onset epileptic encephalopathy in two patients. We report on three more patients carrying ATP1A3 mutations with a close phenotype and discuss the relationship of this phenotype to alternating hemiplegia of childhood...
May 31, 2018: Brain & Development
https://www.readbyqxmd.com/read/29801192/variants-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
#5
Niklas Holze, Andreas van Baalen, Ulrich Stephani, Ingo Helbig, Hiltrud Muhle
Mutations in the ATP1A3 gene are known to cause alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism (RDP). Both conditions are childhood-onset neurological disorders with distinct symptoms and different times of onset. ATP1A3 has also been associated with CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss). Within the various ATP1A3 -related neurological syndromes, a specific genotype-phenotype correlation is starting to emerge...
May 25, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29780895/salvage-procedure-using-a-chimney-endograft-for-early-cerebral-ischaemia-after-hybrid-aortic-arch-repair-of-a-primary-aorto-bronchial-fistula
#6
M Cappelle, V Coppin, H Thieren, G Maleux, I Fourneau
Introduction: Hybrid aortic arch repair for the treatment of aorto-bronchial fistulas has been suggested as a safe alternative to open repair. However, surgical morbidity and mortality are still significant and re-intervention is sometimes inevitable. Report: Successful rescue by a hybrid approach is reported in a 76 year old woman who was transferred from another centre with recurrent episodes of left hemiplegia shortly after debranching of the supra-aortic vessels and thoracic aortic stent grafting for an aorto-bronchial fistula associated with a true aneurysm at the level of origin of the left subclavian artery...
2018: EJVES Short Reports
https://www.readbyqxmd.com/read/29775954/a-new-methodology-based-on-functional-principal-component-analysis-to-study-postural-stability-post-stroke
#7
M Luz Sánchez-Sánchez, Juan-Manuel Belda-Lois, Silvia Mena-Del Horno, Enrique Viosca-Herrero, Celedonia Igual-Camacho, Beatriz Gisbert-Morant
BACKGROUND: A major goal in stroke rehabilitation is the establishment of more effective physical therapy techniques to recover postural stability. Functional Principal Component Analysis provides greater insight into recovery trends. However, when missing values exist, obtaining functional data presents some difficulties. The purpose of this study was to reveal an alternative technique for obtaining the Functional Principal Components without requiring the conversion to functional data beforehand and to investigate this methodology to determine the effect of specific physical therapy techniques in balance recovery trends in elderly subjects with hemiplegia post-stroke...
May 5, 2018: Clinical Biomechanics
https://www.readbyqxmd.com/read/29625811/further-characterization-of-capos-caos-syndrome-with-the-glu818lys-mutation-in-the-atp1a3-gene-a-case-report
#8
Takuya Hayashida, Yoshiaki Saito, Atsushi Ishii, Shinichi Hirose, Rika Hiraiwa, Yoshihiro Maegaki, Kousaku Ohno
A 38-year-old female patient experienced recurrent episodes of neurological deterioration during febrile illness at the age of 7 and 8 months, and 2, 4, and 37 years. Acute symptoms comprised unconsciousness, headache, abnormal ocular movements, flaccid paralysis with areflexia, ataxia, dysphagia, and movement disorders. Each episode of neurological deterioration was followed by partial recovery with residual symptoms of progressive disturbance of visual acuity with optic atrophy and hearing loss, moderate intellectual disability, strabismus, ophthalmoplegia, as well as fluctuating degree of gait ataxia, chorea, tremor, and myoclonus...
April 3, 2018: Brain & Development
https://www.readbyqxmd.com/read/29620090/alternating-hemiplegia-of-childhood-clinical-case-and-video-description
#9
Kelvin Au, Tamara Pringsheim
No abstract text is available yet for this article.
October 2017: Neurology. Clinical Practice
https://www.readbyqxmd.com/read/29610157/clinical-benefit-of-nmda-receptor-antagonists-in-a-patient-with-atp1a2-gene-mutation
#10
Keisuke Ueda, Fatema Serajee, Ahm M Huq
Mutations in the ATP1A2 gene cause familial hemiplegic migraine type 2, alternating hemiplegia of childhood, and cerebellar function deficits, epilepsy, and mental retardation. These symptoms are likely related to glutamatergic hyperexcitability. Our patient is a 12-year-old boy with a history of complex partial seizures, attention-deficit/hyperactivity disorder, and fine motor difficulty. During early childhood, he had episodes of a self-resolving right-sided hemiparesis and focal epilepsy. His seizures did not respond to several antiepileptic medications but stopped after he received valproate...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29567111/direct-evidence-of-impaired-neuronal-na-k-atpase-pump-function-in-alternating-hemiplegia-of-childhood
#11
Christine Q Simmons, Christopher H Thompson, Bryan E Cawthon, Grant Westlake, Kathryn J Swoboda, Evangelos Kiskinis, Kevin C Ess, Alfred L George
Mutations in ATP1A3 encoding the catalytic subunit of the Na/K-ATPase expressed in mammalian neurons cause alternating hemiplegia of childhood (AHC) as well as an expanding spectrum of other neurodevelopmental syndromes and neurological phenotypes. Most AHC cases are explained by de novo heterozygous ATP1A3 mutations, but the fundamental molecular and cellular consequences of these mutations in human neurons are not known. In this study, we investigated the electrophysiological properties of neurons generated from AHC patient-specific induced pluripotent stem cells (iPSCs) to ascertain functional disturbances underlying this neurological disease...
July 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29397530/childhood-rapid-onset-ataxia-expanding-the-phenotypic-spectrum-of-atp1a3-mutations
#12
Tommaso Schirinzi, Federica Graziola, Francesco Nicita, Lorena Travaglini, Fabrizia Stregapede, Massimiliano Valeriani, Paolo Curatolo, Enrico Bertini, Federico Vigevano, Alessandro Capuano
ATP1A3 mutations are related to a wide spectrum of clinical conditions, including several defined syndromes as rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), together with many other intermediate phenotypes. Ataxia is always more increasingly reported, either as accessory or prominent sign, in ATP1A3-related conditions, being thus considered as a peculiar feature of this spectrum...
February 3, 2018: Cerebellum
https://www.readbyqxmd.com/read/29396171/atp1a3-spectrum-disorders-a-video-documented-history-of-7-genetically-confirmed-early-onset-cases
#13
Michela Stagnaro, Livia Pisciotta, Marcella Gherzi, Maja Di Rocco, Fiorella Gurrieri, Elena Parrini, Giulia Prato, Edvige Veneselli, Elisa De Grandis
Mutations in the ATP1A3 gene, which encodes the alpha3 -subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome. Moreover, an increasing number of patients with intermediate and non classical phenotypes have been reported. Herein we describe 7 patients with 6 different de novo ATP1A3 mutations, and we focus on paroxysmal and chronic movement disorders with the help of video documentation...
March 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29395663/atp1a3-related-epileptic-encephalopathy-responding-to-ketogenic-diet
#14
Tommaso Schirinzi, Federica Graziola, Raffaella Cusmai, Lucia Fusco, Francesco Nicita, Mirella Elia, Lorena Travaglini, Enrico Bertini, Paolo Curatolo, Federico Vigevano, Alessandro Capuano
BACKGROUND: Alternating Hemiplegia of Childhood (AHC) is a rare neurological disease caused by mutations in ATP1A3 gene codifying for alpha3 subunit of Na+ -K+ ATPase pump. Repeated and transient attacks of hemiplegia, usually affecting one side of the body or the other, or both sides of the body at once, are the core features of AHC. Monocular nystagmus, other abnormalities in ocular movements, dystonic posturing and epilepsy are commonly associated to AHC. However, the spectrum of ATP1A3 related diseases is still expanding and new phenotypes have been reported...
May 2018: Brain & Development
https://www.readbyqxmd.com/read/29305691/the-capos-mutation-in-atp1a3-alters-na-k-atpase-function-and-results-in-auditory-neuropathy-which-has-implications-for-management
#15
Lisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, Nanna D Rendtorff, Hanne Poulsen, Himanshu Khandelia, Wojciech Kopec, Troels J Brünnich Lyngbye, Christian Hamel, Cecile Delettre, Beatrice Bocquet, Michael Bille, Hanne H Owen, Toke Bek, Hanne Jensen, Karen Østergaard, Claes Möller, Linda Luxon, Lucinda Carr, Louise Wilson, Kaukab Rajput, Tony Sirimanna, Katherine Harrop-Griffiths, Shamima Rahman, Barbara Vona, Julia Doll, Thomas Haaf, Oliver Bartsch, Hendrik Rosewich, Tobias Moser, Maria Bitner-Glindzicz
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS) is a rare clinically distinct syndrome caused by a single dominant missense mutation, c.2452G>A, p.Glu818Lys, in ATP1A3, encoding the neuron-specific alpha subunit of the Na+/K+-ATPase α3. Allelic mutations cause the neurological diseases rapid dystonia Parkinsonism and alternating hemiplegia of childhood, disorders which do not encompass hearing or visual impairment. We present detailed clinical phenotypic information in 18 genetically confirmed patients from 11 families (10 previously unreported) from Denmark, Sweden, UK and Germany indicating a specific type of hearing impairment-auditory neuropathy (AN)...
February 2018: Human Genetics
https://www.readbyqxmd.com/read/29031830/action-observation-facilitates-motor-cortical-activity-in-patients-with-stroke-and-hemiplegia
#16
Marina Tani, Yumie Ono, Miku Matsubara, Satoko Ohmatsu, Yoshihiro Yukawa, Masashi Kohno, Takanori Tominaga
Motor imagery (MI) is a mental practice that reproduces the visual- and/or kinesthetic-modality brain activations accompanying movement. It is a useful rehabilitation technique as the affected motor cortex can be stimulated in patients with stroke and hemiplegia. However, most patients with stroke have difficulty with MI owing to advanced age and/or higher-cognitive dysfunction, thus impairing their ability to internally simulate the action. We therefore investigated whether action observation (AO), an alternative form of motor stimulation that works via the mirror-neuron system, could facilitate motor cortical activity in such patients...
October 12, 2017: Neuroscience Research
https://www.readbyqxmd.com/read/28988699/disruption-of-ankyrin-b-and-caveolin-1-interaction-sites-alters-na-k-atpase-membrane-diffusion
#17
Cornelia Junghans, Vladana Vukojević, Neslihan N Tavraz, Eugene G Maksimov, Werner Zuschratter, Franz-Josef Schmitt, Thomas Friedrich
The Na+ ,K+ -ATPase is a plasma membrane ion transporter of high physiological importance for ion homeostasis and cellular excitability in electrically active tissues. Mutations in the genes coding for Na+ ,K+ -ATPase α-subunit isoforms lead to severe human pathologies including Familial Hemiplegic Migraine type 2, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia Parkinsonism, or epilepsy. Many of the reported mutations lead to change- or loss-of-function effects, whereas others do not alter the functional properties, but lead to, e...
November 21, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28969699/a-randomized-controlled-double-blind-crossover-trial-of-triheptanoin-in-alternating-hemiplegia-of-childhood
#18
Elodie Hainque, Samantha Caillet, Sandrine Leroy, Constance Flamand-Roze, Isaac Adanyeguh, Fanny Charbonnier-Beaupel, Maryvonne Retail, Benjamin Le Toullec, Mariana Atencio, Sophie Rivaud-Péchoux, Vanessa Brochard, Florence Habarou, Chris Ottolenghi, Florence Cormier, Aurélie Méneret, Marta Ruiz, Mohamed Doulazmi, Anne Roubergue, Jean-Christophe Corvol, Marie Vidailhet, Fanny Mochel, Emmanuel Roze
BACKGROUND: 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. METHODS: 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...
October 2, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28900444/more-than-a-decade-of-misdiagnosis-of-alternating-hemiplegia-of-childhood-with-catastrophic-outcome
#19
Hussein Algahtani, Bashair Ibrahim, Bader Shirah, Ahmad Aldarmahi, Ahad Abdullah
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 of AHC in which the diagnosis was missed for many years until severe hypoxic brain insult occurred from prolonged status epilepticus. Not only we are presenting an interesting clinical entity and radiological images, but also we are shedding the light on a rare genetic disease with catastrophic sequelae...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28899462/-diagnosis-of-alternating-hemiplegia-of-childhood
#20
Rong Luo
No abstract text is available yet for this article.
September 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
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