Results 71 to 80 of about 173,609 (136)

Characterization of Cognitive Deficits in Mice with an Alternating Hemiplegia-Linked Mutation [PDF]

open access: yes, 2015
Cognitive impairment is a prominent feature in a range of different movement disorders. Children with Alternating Hemiplegia of Childhood are prone to developmental delay, with deficits in cognitive functioning becoming progressively more evident as they
Roder, JC   +7 more
core   +1 more source

Neonatal onset of hot water reflex seizures in monozygotic twins subsequently manifesting episodes of alternating hemiplegia. [PDF]

open access: yes, 2008
We report on monozygotic twins with neonatal onset of daily reflex seizures triggered by hot water. Video record during the hot water bathing showed clinical signs consistent with a reflex seizure.
Mazzone L   +6 more
core   +2 more sources

Nursing care for patients with rare diseases on the example of patients with Alternating Hemiplegia of Childhood

open access: yesHealth Promotion & Physical Activity, 2018
Introduction: Rare diseases are those which occur in 1 person in 2000. Usually they are genetically conditioned. They also comprise diseases which appear as a result of metabolic, immunological defects, infections and uncommon cancers.
Małgorzata Pazdur
doaj   +1 more source

Alternating Hemiplegia of Childhood: Understanding the Genotype–Phenotype Relationship of ATP1A3 Variations

open access: yesThe Application of Clinical Genetics, 2020
Alessandro Capuano,1 Giacomo Garone,1,2 Giuseppe Tiralongo,1 Federica Graziola1 1Movement Disorders Clinic, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children’s Hospital, Rome, Italy; 2University Hospital ...
Capuano A   +3 more
doaj  

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

open access: yesCase 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   +4 more
doaj   +1 more source

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

open access: yesNeurobiology 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   +7 more
doaj   +1 more source

Alternating model trees [PDF]

open access: yes, 2015
Model tree induction is a popular method for tackling regression problems requiring interpretable models. Model trees are decision trees with multiple linear regression models at the leaf nodes.
Kramer, Stefan   +5 more
core   +1 more source

A rare disease during childhood; alternating hemiplegia

open access: yes, 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   +5 more
core  

Recognizable facial features in patients with alternating hemiplegia of childhood.

open access: yes, 2016
Alternating hemiplegia of childhood is an early onset neurodevelopmental disorder characterized by paroxystic episodes of alternating hemiplegia, variable degrees of intellectual disability, and dystonic movements.
Neri, Giovanni   +7 more
core   +1 more source

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

open access: yes, 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   +11 more
core   +1 more source

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