Literature DB >> 34765691

Long-Term Follow-Up of a Patient with a De Novo p.Arg769Cys Mutation in the ATP1A3 Gene.

Anjali Chouksey1, Asish Vijayaraghavan1, Sony Mohan2, Srija Inturi1, A T Prabhakar1, Vivek Mathew1.   

Abstract

Entities:  

Keywords:  ATP1A3; CAPOS syndrome; alternating hemiplegia of childhood; rapid‐onset dystonia parkinsonism

Year:  2021        PMID： 34765691      PMCID： PMC8564812          DOI： 10.1002/mdc3.13332

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


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  8 in total

1.  Untangling the complicated web of ATP1A3 mutations.

Authors:  Philippe Salles; Hubert H Fernandez
Journal:  Parkinsonism Relat Disord       Date:  2020-09-10       Impact factor: 4.891

2.  ATP1A3 mutation presenting as CAPOS syndrome + dystonia phenotype.

Authors:  Anjali Chouksey; Sanjay Pandey
Journal:  Parkinsonism Relat Disord       Date:  2020-06-17       Impact factor: 4.891

3.  Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.

Authors:  Pascal Sabouraud; Audrey Riquet; Marie-Aude Spitz; Kumaran Deiva; Sona Nevsimalova; Cyril Mignot; Gaëtan Lesca; Nathalie Bednarek; Diane Doummar; Christine Pietrement; Vincent Laugel
Journal:  Eur J Paediatr Neurol       Date:  2019-02-22       Impact factor: 3.140

4.  Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.

Authors:  Sho T Yano; Kenneth Silver; Richard Young; Suzanne D DeBrosse; Roseànne S Ebel; Kathryn J Swoboda; Gyula Acsadi
Journal:  Pediatr Neurol       Date:  2017-04-29       Impact factor: 3.372

5.  Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome.

Authors:  Hendrik Rosewich; Dagmar Weise; Andreas Ohlenbusch; Jutta Gärtner; Knut Brockmann
Journal:  Neurology       Date:  2014-07-23       Impact factor: 9.910

6.  A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever.

Authors:  Yuji Nakamura; Ayako Hattori; Mitsuko Nakashima; Daisuke Ieda; Ikumi Hori; Yutaka Negishi; Naoki Ando; Naomichi Matsumoto; Shinji Saitoh
Journal:  Brain Dev       Date:  2017-10-21       Impact factor: 1.961

7.  Beyond Dystonia-Parkinsonism: Chorea and Ataxia with ATP1A3 Mutations.

Authors:  Claudio M de Gusmao; Marisela Dy; Nutan Sharma
Journal:  Mov Disord Clin Pract       Date:  2016-01-29

Review 8.  Challenges in Clinicogenetic Correlations: One Gene - Many Phenotypes.

Authors:  Francesca Magrinelli; Bettina Balint; Kailash P Bhatia
Journal:  Mov Disord Clin Pract       Date:  2021-03-02
  8 in total

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