Literature DB >> 28500446

A Portuguese rapid-onset dystonia-parkinsonism case with atypical features.

Ana Luísa Sousa1, Isabel Alonso2,3, Marina Magalhães4.   

Abstract

Entities:  

Keywords:  Cerebellar Ataxia; Dystonia; Myoclonic Epilepsy; Sensorineural Hearing Loss; Sodium Valproate

Mesh：

Substances：

Year:  2017        PMID： 28500446     DOI： 10.1007/s10072-017-2996-4

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  4 in total

Review 1.  Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.

Authors:  B Balint; K P Bhatia
Journal:  Eur J Neurol       Date:  2015-01-29       Impact factor: 6.089

2.  Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes.

Authors:  Cyrus Boelman; Ana Marissa Lagman-Bartolome; Daune L MacGregor; Jane McCabe; Willam J Logan; Berge A Minassian
Journal:  Pediatr Neurol       Date:  2014-08-29       Impact factor: 3.372

Review 3.  The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.

Authors:  Matthew T Sweney; Tara M Newcomb; Kathryn J Swoboda
Journal:  Pediatr Neurol       Date:  2014-10-13       Impact factor: 3.372

Review 4.  ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

Authors:  Allison Brashear; Jonathan W Mink; Deborah F Hill; Niki Boggs; W Vaughn McCall; Mark A Stacy; Beverly Snively; Laney S Light; Kathleen J Sweadner; Laurie J Ozelius; Leslie Morrison
Journal:  Dev Med Child Neurol       Date:  2012-08-28       Impact factor: 5.449
  4 in total
  4 in total

Review 1.  ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.

Authors:  Philippe A Salles; Ignacio F Mata; Tobias Brünger; Dennis Lal; Hubert H Fernandez
Journal:  Front Neurol       Date:  2021-04-01       Impact factor: 4.003

2.  Chinese patients with p.Arg756 mutations of ATP1A3: Clinical manifestations, treatment, and follow-up.

Authors:  Weihua Zhang; Jiuwei Li; Xiuwei Zhuo; Ji Zhou; Weixing Feng; Shuai Gong; Xiaotun Ren; Changhong Ding; Tongli Han; Fang Fang
Journal:  Pediatr Investig       Date:  2022-02-25

3.  ATP1A3 mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysis.

Authors:  Lihua Yu; Guoping Peng; Yuan Yuan; Min Tang; Ping Liu; Xiaoyan Liu; Jie Ni; Yi Li; Caihong Ji; Ziqi Fan; Wenli Zhu; Benyan Luo; Qing Ke
Journal:  Front Aging Neurosci       Date:  2022-08-01       Impact factor: 5.702

Review 4.  Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.

Authors:  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
Journal:  Mol Genet Genomic Med       Date:  2021-08-02       Impact factor: 2.183
  4 in total

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