Results 71 to 80 of about 165,991,670 (135)

Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood

Neurobiology of Disease, 2018
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.
Christine Q. Simmons, Christopher H. Thompson, Bryan E. Cawthon, Grant Westlake, Kathryn J. Swoboda, Evangelos Kiskinis, Kevin C. Ess, Alfred L. George, Jr   +7 more
doaj   +1 more source

Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype

Neurobiology of Disease, 2020
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disease caused by heterozygous de novo missense mutations in the ATP1A3 gene that encodes the neuronal specific α3 subunit of the Na,K-ATPase (NKA) pump. Mechanisms underlying patient
John P. Snow, Grant Westlake, Lindsay K. Klofas, Soyoun Jeon, Laura C. Armstrong, Kathryn J. Swoboda, Alfred L. George, Jr, Kevin C. Ess   +7 more
doaj   +1 more source

Enduring and the horizon of repair: French Caribbean post‐stroke rehabilitation amid health inequity

Medical Anthropology Quarterly, Volume 40, Issue 1, March 2026.
Abstract Drawing on ethnographic research with patients and therapists in post‐stroke rehabilitation, this article explores how Guadeloupeans strive to exist on their own terms amid postcolonial health inequities, forms of marginalization and institutional disrepair.
Raphaëlle Melissa Rabanes
wiley   +1 more source

Comparative 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 Disease, 2020
Heterozygous mutations in the ATP1A3 gene, coding for an alpha subunit isoform (α3) of Na+/K+-ATPase, are the primary genetic cause for rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC).
Elinor Lazarov, Merle Hillebrand, Simone Schröder, Katharina Ternka, Julia Hofhuis, Andreas Ohlenbusch, Alonso Barrantes-Freer, Luis A. Pardo, Marlene U. Fruergaard, Poul Nissen, Knut Brockmann, Jutta Gärtner, Hendrik Rosewich   +12 more
doaj   +1 more source

‘What's in a Name?’ Naming Genetically Determined Movement Disorders: Gap and Controversy

Movement Disorders, Volume 41, Issue 2, Page 342-350, February 2026.
Abstract In 2016, the International Parkinson and Movement Disorder Society (MDS) Task Force for Genetic Nomenclature in Movement Disorders laid out a new proposal for naming genetically determined movement disorders. This proposal sought to address the difficulties arising from the practical usage of numbered loci (eg, DYT1, DYT2, DYT3, etc.) as names
Connie Marras, Alberto Albanese, Mark Hallett, Christine Klein, Katja Lohmann, the Genetic Nomenclature in Movement Disorders Study Group Steering Committee, Christos Ganos, Sarah Camargos, Anthony E. Lang, Darius Ebrahimi‐Fakhari, Claudia Del Gamba, Bart van de Warrenburg, Lakshya Basumatary, Lara Lange, Diana Olszewska, Zhidong Cen, Kishore Kumar, Mohamed Zahir, Carolyn Sue, H.A. Jinnah   +19 more
wiley   +1 more source

Benign nocturnal alternating hemiplegia of childhood: The first clinical report with paroxysmal events home-video recordings.

, 2008
Benign familial nocturnal alternating hemiplegia of childhood (BNAHC) is a rare disorder characterized by recurrent attacks of hemiplegia, arising from sleep Without progression to neurological or intellectual impairment.
VECCHI, MARILENA, Anna Maria Laverda, DALLA BERNARDINA B, Bernardo Dalla Bernardina, SARTORI, STEFANO, LAVERDA, ANNA MARIA, BONIVER, CLEMENTINA, Stefano Sartori, Marilena Vecchi, Clementina Boniver, TOLDO, IRENE, Irene Toldo   +11 more
core   +1 more source

An Option to Consider for Alternating Hemiplegia of Childhood: Aripiprazole [PDF]

, 2019
Alternating hemiplegia of childhood (AHC) is an infrequent neurological disorder characterized by recurrent transient attacks of hemiplegia that last minutes to days and impress either side of the body, dystonic or tonic attacks, and nystagmus. Cognitive
Nihal Olgac Dundar, Mehmet Oytun Hasturk, Cavusoglu, Dilek, Kaplan, Y. C., Hasturk, Mehmet Oytun, Yusuf Cem Kaplan, Olgaç-Dündar, Nihal, Dilek Cavusoglu   +7 more
core   +1 more source

A rare disease during childhood; alternating hemiplegia

, 2005
Alternating Hemiplegia is a rare childhood disease, characterized by the hemiplegia and dystonic attacks especially on the upper extremities. A 15 month-old male patient had been admitted for the first time for left arm plegia at the age of eleven months.
Gedik, Hakan, Kilic, Omer, Tatli, Burak, Aydinli, Nur, Ozmen, Meral, ÇALIŞKAN, Meliha Mine   +5 more
core  

Episodic Weakness and Irritability in a Child with Developmental Delay: History is the Key!

Indian Pediatrics Case Reports
Background: We describe a 5-year-old girl with episodic weakness whose diagnosis was reached primarily with history and examination, later confirmed with genetic testing.
Cindy Ralte, Kavya Goyal, Devendra Mishra   +2 more
doaj   +1 more source

Benign nocturnal alternating hemiplegia of childhood: a new case with unusual findings [PDF]

, 2014
It has been described a neuro developmental disorder labelled “Benign nocturnal alternating hemiplegia of childhood” (BNAHC) characterized by recurrent attacks of nocturnal hemiplegia without progression to neurological or intellectual impairment.
MANGANO, Giuseppa Renata, FONTANA, Antonina, MANGANO, Salvatore, Spitaleri,C   +3 more
core   +1 more source