Literature DB >> 30713930

A Distinct Phenotype in a Novel ATP1A3 Mutation: Connecting the Two Ends of a Spectrum.

Pedro Pereira1, Andreia Guerreiro2, Maria Fonseca3, Cristina Halpern3, Jorge Pinto-Basto4, José P Monteiro3.   

Abstract

Entities:  

Keywords:  alternating hemiplegia of childhood; intermediate phenotype; rapid‐onset dystonia‐parkinsonism

Year:  2015        PMID： 30713930      PMCID： PMC6353589          DOI： 10.1002/mdc3.12263

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  12 in total

1.  Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.

Authors:  Masayuki Sasaki; Atsushi Ishii; Yoshiaki Saito; Shinichi Hirose
Journal:  Mov Disord       Date:  2013-09-30       Impact factor: 10.338

2.  Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.

Authors:  I A Anselm; K J Sweadner; S Gollamudi; L J Ozelius; B T Darras
Journal:  Neurology       Date:  2009-08-04       Impact factor: 9.910

3.  The multiple faces of the ATP1A3-related dystonic movement disorder.

Authors:  Anne Roubergue; Emmanuel Roze; Sandrine Vuillaumier-Barrot; Marie-Joséphine Fontenille; Aurélie Méneret; Marie Vidailhet; Bertrand Fontaine; Diane Doummar; Bertrand Philibert; Florence Riant; Sophie Nicole
Journal:  Mov Disord       Date:  2013-03-08       Impact factor: 10.338

4.  A novel ATP1A3 mutation with unique clinical presentation.

Authors:  Hendrik Rosewich; Martina Baethmann; Andreas Ohlenbusch; Jutta Gärtner; Knut Brockmann
Journal:  J Neurol Sci       Date:  2014-03-25       Impact factor: 3.181

Review 5.  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

6.  Genotype-phenotype correlations in alternating hemiplegia of childhood.

Authors:  Masayuki Sasaki; Atsushi Ishii; Yoshiaki Saito; Naoya Morisada; Kazumoto Iijima; Satoshi Takada; Atsushi Araki; Yuko Tanabe; Hidee Arai; Sumimasa Yamashita; Tsukasa Ohashi; Yoichiro Oda; Hiroshi Ichiseki; Shininchi Hirabayashi; Akihiro Yasuhara; Hisashi Kawawaki; Sadami Kimura; Masayuki Shimono; Seiro Narumiya; Motomasa Suzuki; Takeshi Yoshida; Yoshinobu Oyazato; Shuichi Tsuneishi; Shiro Ozasa; Kenji Yokochi; Sunao Dejima; Tomoyuki Akiyama; Nobuyuki Kishi; Ryutaro Kira; Toshio Ikeda; Hirokazu Oguni; Bo Zhang; Shoji Tsuji; Shinichi Hirose
Journal:  Neurology       Date:  2014-01-15       Impact factor: 9.910

7.  The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.

Authors:  Allison Brashear; William B Dobyns; Patricia de Carvalho Aguiar; Michel Borg; C J M Frijns; Seema Gollamudi; Andrew Green; João Guimaraes; Bret C Haake; Christine Klein; Gurutz Linazasoro; Alexander Münchau; Deborah Raymond; David Riley; Rachel Saunders-Pullman; Marina A J Tijssen; David Webb; Jacek Zaremba; Susan B Bressman; Laurie J Ozelius
Journal:  Brain       Date:  2007-02-04       Impact factor: 13.501

8.  Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.

Authors:  Patricia de Carvalho Aguiar; Kathleen J Sweadner; John T Penniston; Jacek Zaremba; Liu Liu; Marsha Caton; Gurutz Linazasoro; Michel Borg; Marina A J Tijssen; Susan B Bressman; William B Dobyns; Allison Brashear; Laurie J Ozelius
Journal:  Neuron       Date:  2004-07-22       Impact factor: 17.173

Review 9.  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

10.  A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.

Authors:  Michelle K Demos; Clara Dm van Karnebeek; Colin Jd Ross; Shelin Adam; Yaoqing Shen; Shing Hei Zhan; Casper Shyr; Gabriella Horvath; Mohnish Suri; Alan Fryer; Steven Jm Jones; Jan M Friedman
Journal:  Orphanet J Rare Dis       Date:  2014-01-28       Impact factor: 4.123
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  2 in total

1.  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 2.  The Phenotypic Continuum of ATP1A3-Related Disorders.

Authors:  Aikaterini Vezyroglou; Rhoda Akilapa; Katy Barwick; Saskia Koene; Catherine A Brownstein; Muriel Holder-Espinasse; Andrew E Fry; Andrea H Németh; George K Tofaris; Eleanor Hay; Imelda Hughes; Sahar Mansour; Santosh R Mordekar; Miranda Splitt; Peter D Turnpenny; Demetria Demetriou; Tamara T Koopmann; Claudia A L Ruivenkamp; Pankaj B Agrawal; Lucinda Carr; Virginia Clowes; Neeti Ghali; Susan Elizabeth Holder; Jessica Radley; Alison Male; Sanjay M Sisodiya; Manju A Kurian; J Helen Cross; Meena Balasubramanian
Journal:  Neurology       Date:  2022-07-18       Impact factor: 11.800
  2 in total

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