Results 21 to 30 of about 2,451 (126)

Candidate genes of the development of antipsychotic-induced parkinsonism in patients with schizophrenia

Обозрение психиатрии и медицинской психологии имени В.М. Бехтерева, 2021
Antipsychotic-induced parkinsonism is an undesirable reaction from the extrapyramidal system that occurs against the background of taking antipsychotics (AP), more often in patients with schizophrenia.
E. E. Vaiman, N. A. Shnayder, N. G. Neznanov, R. F. Nasyrova   +3 more
doaj   +1 more source

Frequent Fall: Seizure or Weakness? A Case Report of Alternating Hemiplegia of Childhood [PDF]

Journal of Clinical and Diagnostic Research, 2022
Alternating Hemiplegia of Childhood (AHC) is a complex disease which causes recurrent hemiplegic attacks. Although ATP1A3 gene has been identified as the cause of this neurological entity, many variants are being reported nowadays, adding to the spectrum
Sundari Subramanian, Ramya Ramanathan, Srinithi Ravikumar   +2 more
doaj   +1 more source

Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3

Frontiers in Cellular Neuroscience, 2019
BackgroundATP1A3 encodes the α3 subunit of the Na+/K+ ATPase, a fundamental ion-transporting enzyme. Primarily expressed in neurons, ATP1A3 is mutated in several autosomal dominant neurological diseases.
August A. Allocco, Sheng Chih Jin, Sheng Chih Jin, Phan Q. Duy, Charuta G. Furey, Xue Zeng, Xue Zeng, Weilai Dong, Carol Nelson-Williams, Jason K. Karimy, Tyrone DeSpenza, Le T. Hao, Benjamin Reeves, Shozeb Haider, Murat Gunel, Murat Gunel, Richard P. Lifton, Richard P. Lifton, Kristopher T. Kahle, Kristopher T. Kahle, Kristopher T. Kahle, Kristopher T. Kahle   +21 more
doaj   +1 more source

In Vivo Modelling of ATP1A3 G316S-Induced Ataxia in C. elegans Using CRISPR/Cas9-Mediated Homologous Recombination Reveals Dominant Loss of Function Defects. [PDF]

PLoS ONE, 2016
The NIH Undiagnosed Diseases Program admitted a male patient with unclassifiable late-onset ataxia-like symptoms. Exome sequencing revealed a heterozygous de novo mutation converting glycine 316 to serine in ATP1A3, which might cause disease.
Altar Sorkaç, Ivan C Alcantara, Anne C Hart   +2 more
doaj   +1 more source

Molecular cloning and characterization of porcine Na⁺/K⁺-ATPase isoforms α1, α2, α3 and the ATP1A3 promoter.

PLoS ONE, 2013
Na⁺/K⁺-ATPase maintains electrochemical gradients of Na⁺ and K⁺ essential for a variety of cellular functions including neuronal activity. The α-subunit of the Na⁺/K⁺-ATPase exists in four different isoforms (α1-α4) encoded by different genes.
Carina Henriksen, Kasper Kjaer-Sorensen, Anja Pernille Einholm, Lone Bruhn Madsen, Jamal Momeni, Christian Bendixen, Claus Oxvig, Bente Vilsen, Knud Larsen   +8 more
doaj   +1 more source

Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review

Molecular Genetics & Genomic Medicine, 2021
Background Variants in ATP1A3 cause well‐known phenotypes—alternating hemiplegia of childhood (AHC), rapid‐onset dystonia‐parkinsonism (RDP), cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS), and severe early ...
Mateusz Biela, Malgorzata Rydzanicz, Krystyna Szymanska, Karolina Pieniawska‐Smiech, Aleksandra Lewandowicz‐Uszynska, Joanna Chruszcz, Lucyna Benben, Malgorzata Kuzior‐Plawiak, Pawel Szyld, Aleksandra Jakubiak, Leszek Szenborn, Rafal Ploski, Robert Smigiel   +12 more
doaj   +1 more source

A childhood ⁃ onset rapid ⁃ onset dystonia Parkinsonism patient with ATP1A3 gene mutation and literature review

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
Objective To study the clinical characteristics, diagnosis, treatment and prognosis of a patient with childhood⁃onset rapid⁃onset dystonia Parkinsonism (RDP) caused by ATP1A3 gene mutation, and review the related literature.
KANG Qing⁃yun, LIAO Cai⁃shi, LIAO Hong⁃mei, CHEN Bo, YANG Li⁃ming   +4 more
doaj   +1 more source

Rapid-onset dystonia-parkinsonism is associated with reduced cerebral blood flow without gray matter changes

Frontiers in Neurology, 2023
PurposePrevious research showed discrete neuropathological changes associated with rapid-onset dystonia-parkinsonism (RDP) in brains from patients with an ATP1A3 variant, specifically in areas that mediate motor function. The purpose of this study was to
Christopher T. Whitlow, Christopher T. Whitlow, Christopher T. Whitlow, Christopher T. Whitlow, Kyle M. Atcheson, Beverly M. Snively, Beverly M. Snively, Jared F. Cook, Jeongchul Kim, Ihtsham U. Haq, Kathleen J. Sweadner, Laurie J. Ozelius, Allison Brashear   +12 more
doaj   +1 more source

Alternating Hemiplegia and Cardiac Dysrhythmia

Pediatric Neurology Briefs, 2015
Investigators at the National Hospital for Neurology and Neurosurgery, Queen Square, London, and multiple centers in the UK, Europe, US, Melbourne, Australia, and Canada, analyzed ECG recordings of 52 patients with alternating hemiplegia from 9 countries;
J. Gordon Millichap
doaj   +1 more source

Intermediate Phenotypes of ATP1A3 Mutations: Phenotype–Genotype Correlations

Tremor and Other Hyperkinetic Movements, 2015
Background: ATP1A3-related disorders include rapid-onset dystonia–parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss ...
Pichet Termsarasab, Amy C. Yang, Steven J. Frucht   +2 more
doaj   +1 more source