Results 21 to 30 of about 165,991,670 (135)

Vascular Abnormalities in Alternating Hemiplegia

Pediatric Neurology Briefs, 2006
Skin and/or muscle biopsies in 4 patients, ages 18 months, 8, 9, and 16 years, with alternating hemiplegia of childhood (AHC) were examined by electron microscopy and compared with healthy controls in a study at University Hospital, Lille, France.
J Gordon Millichap
doaj   +2 more sources

Unraveling Alternating Hemiplegia of Childhood: A Case Report with Genetic and Clinical Insights [PDF]

Case Reports in Neurology
Introduction: 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.
Samanwita Mahapatra, Abhishek Singh, Aditi Das, Rohit Bhowmick, Niladri Sekhar Bhunia, Subhankar Sarkar, Nupur Bajpai, Rimjhim Sonowal, Atanu Kumar Dutta, Nihar Ranjan Mishra   +9 more
doaj   +2 more sources

Acute alternating hemiplegia. A case report

The Turkish Journal of Pediatrics, 1996
Acute alternating hemiplegia in childhood is a rare disorder characterized by onset before 18 months of age and frequent attacks of alternating paralysis. In this case report, a 20-month-old boy having the diagnosis of acute alternating hemiplegia
H Tekgül, S Tütüncüoğlu, A Muhan, Y Duman   +3 more
doaj   +4 more sources

Natural History of Alternating Hemiplegia of Childhood: Vulnerabilities in Early Childhood and Predictive Factors for Long‐Term Outcomes [PDF]

Annals of the Child Neurology Society
Objective The natural history of the most common ATP1A3‐related disease, alternating hemiplegia of childhood (AHC), has not been determined. We investigated three hypotheses: (1) AHC worsens over time; (2) several novel factors correlate with long‐term ...
Shital H. Patel, Eleni Panagiotakaki, Beiyu Liu, Carmen Fons, Lyndsey Prange, Maria T. Papadopoulou, April Boggs, Elisa De Grandis, Aikaterini Vezyroglou, Francesco Fortunato, Simona Balestrini, Francesca Ragona, Eugenia Julia Tosi, Claudio Zucca, Giacomo Garone, Andrey Megvinov, Giosuè Lo Bosco, Michela Stagnaro, Julie Uchitel, Marion Comajuan, Matthildi Athina Papathanasiou Terzi, Jennifer Anticona, Joan M. Jasien, Jeffrey Wuchich, Sigurdur H. Johannesson, J. Narayan, J. Helen Cross, Sanjay M. Sisodiya, Hwanhee Hong, Alexis Arzimanoglou, Rosaria Vavassori, Mohamad A. Mikati   +31 more
doaj   +2 more sources

Genotype-Phenotype Correlations in Alternating Hemiplegia

Pediatric Neurology Briefs, 2014
Researchers at the National Center of Neurology and Psychiatry, Kodaira, and multiple centers in Japan, analyze the clinical features and ATP1A3 mutations in 35 Japanese children diagnosed with alternating hemiplegia of childhood (AHC).
J Gordon Millichap, John J Millichap
doaj   +2 more sources

Novel mouse model of alternating hemiplegia of childhood exhibits prominent motor and seizure phenotypes [PDF]

Neurobiology of Disease
Pathogenic variants in ATP1A3 encoding the neuronal Na/K-ATPase cause a spectrum of neurodevelopmental disorders including alternating hemiplegia of childhood (AHC).
Nicole A. Hawkins, Jean-Marc DeKeyser, Jennifer A. Kearney, Alfred L. George, Jr.   +3 more
doaj   +2 more sources

Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice [PDF]

Neurobiology of Disease
Pathogenic variants in the neuronal Na+/K+ ATPase transmembrane ion transporter (ATP1A3) cause a spectrum of neurological disorders including alternating hemiplegia of childhood (AHC). The most common de novo pathogenic variants in AHC are p.D801N (∼40 %
Markus Terrey, Georgii Krivoshein, Scott I. Adamson, Elena Arystarkhova, Laura Anderson, John Szwec, Shelby McKee, Holly Jones, Sara Perkins, Vijay Selvam, Pierre-Alexandre Piec, Dweet Chhaya, Ari Dehn, Aamir Zuberi, Stephen A. Murray, Natalia S. Morsci, Kathleen J. Sweadner, David A. Knowles, Else A. Tolner, Arn M.J.M. van den Maagdenberg, Cathleen M. Lutz   +20 more
doaj   +2 more sources

In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism [PDF]

Frontiers in Neuroscience
IntroductionWe previously reported that ATP1A3 c.823G>C (p.Ala275Pro) mutant causes varying phenotypes of alternative hemiplegia of childhood and rapid-onset dystonia-parkinsonism in the same family.
Dan-dan Ruan, Jing Zou, Li-sheng Liao, Li-sheng Liao, Ming-dong Ji, Ruo-li Wang, Ruo-li Wang, Jian-hui Zhang, Li Zhang, Li Zhang, Mei-zhu Gao, Mei-zhu Gao, Qian Chen, Hong-ping Yu, Wen Wei, Yun-fei Li, Yun-fei Li, Hong Li, Fan Lin, Fan Lin, Jie-wei Luo, Xin-fu Lin, Xin-fu Lin   +22 more
doaj   +2 more sources

More Than a Decade of Misdiagnosis of Alternating Hemiplegia of Childhood with Catastrophic Outcome [PDF]

Case Reports in Medicine, 2017
Alternating hemiplegia of childhood (AHC) is a distinct clinical disorder characterized by recurrent episodes of hemiplegia, abnormal ocular movement, and progressive developmental delay.
Hussein Algahtani, Bashair Ibrahim, Bader Shirah, Ahmad Aldarmahi, Ahad Abdullah   +4 more
doaj   +2 more sources

Alternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+, K+-ATPase a3 missense mutant mice [PDF]

, 2013
Missense mutations in ATP1A3 encoding Na+,K+-ATPase α3 have been identified as the primary cause of alternating hemiplegia of childhood (AHC), a motor disorder with onset typically before the age of 6 months. Affected children tend to be of short stature
Edwards, Ian J., Susan H Fox, Kirshenbaum, Greer S., Mullins, Jonathan G. L., Pratt, Judith A, Kirshenbaum, Greer S, Mark J Drinkhill, Roder John C., Greer S Kirshenbaum, Drinkhill Mark J., Jonathan G L Mullins, Jonathan M. Brotchie (355205), Clapcote, Steven J., Brotchie, Jonathan M, Brotchie, Jonathan M., Edwards, Ian, Tom H Johnston, Mullins, Jonathan, Roder, John, Jonathan M Brotchie, Roder, John C., Ian J Edwards, Mullins, Jonathan G L, Neil Dawson (392035), Kirshenbaum, Greer, Johnston Tom H., Johnston, Tom H., Judith A Pratt, Mark J. Drinkhill (392036), Pratt, Judith, Fox, Susan H., Susan H. Fox (306673), Dawson, Neil, Roder, John C, Pratt Judith A., Brotchie Jonathan M., Fox Susan H., Drinkhill, Mark J., Johnston, Tom H, Clapcote, Stephen, Jonathan G. L. Mullins (215855), John C. Roder (109647), Mullins Jonathan G. L., Greer S. Kirshenbaum (392034), Tom H. Johnston (306667), Kirshenbaum Greer S., Fox, Susan, Johnston, Tom, Steven J Clapcote, Brotchie, Jonathan, Drinkhill, Mark, Fox, Susan H, Drinkhill, Mark J, Neil Dawson, Judith A. Pratt (392038), Ian J. Edwards (392037), Steven J. Clapcote (392039), Pratt, Judith A., John C Roder, Dawson Neil, Edwards, Ian J, Edwards Ian J., Clapcote, Steven J, Clapcote Steven J.   +63 more
core   +5 more sources