Literature DB >> 25056583

Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome.

Hendrik Rosewich1, Dagmar Weise1, Andreas Ohlenbusch1, Jutta Gärtner1, Knut Brockmann2.   

Abstract

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Year:  2014        PMID： 25056583     DOI： 10.1212/WNL.0000000000000735

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  21 in total

1.  The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

Authors:  Lisbeth Tranebjærg; Nicola Strenzke; Sture Lindholm; Nanna D Rendtorff; Hanne Poulsen; Himanshu Khandelia; Wojciech Kopec; Troels J Brünnich Lyngbye; Christian Hamel; Cecile Delettre; Beatrice Bocquet; Michael Bille; Hanne H Owen; Toke Bek; Hanne Jensen; Karen Østergaard; Claes Möller; Linda Luxon; Lucinda Carr; Louise Wilson; Kaukab Rajput; Tony Sirimanna; Katherine Harrop-Griffiths; Shamima Rahman; Barbara Vona; Julia Doll; Thomas Haaf; Oliver Bartsch; Hendrik Rosewich; Tobias Moser; Maria Bitner-Glindzicz
Journal:  Hum Genet       Date:  2018-01-05       Impact factor: 4.132

2.  Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

Authors:  Marie Hully; Juliette Ropars; Laurence Hubert; Nathalie Boddaert; Marlene Rio; Mathieu Bernardelli; Isabelle Desguerre; Valerie Cormier-Daire; Arnold Munnich; Pascale de Lonlay; Louise Reilly; Claude Besmond; Nadia Bahi-Buisson
Journal:  Neurogenetics       Date:  2016-10-10       Impact factor: 2.660

3.  The Endless Expansion of the Phenotypic Spectrum of ATP1A3 Mutations: A True Diagnostic Challenge.

Authors:  Niccolò E Mencacci
Journal:  Mov Disord Clin Pract       Date:  2016-05-09

4.  Functional consequences of the CAPOS mutation E818K of Na+,K+-ATPase.

Authors:  Christian P Roenn; Melody Li; Vivien R Schack; Ian C Forster; Rikke Holm; Mads S Toustrup-Jensen; Jens P Andersen; Steven Petrou; Bente Vilsen
Journal:  J Biol Chem       Date:  2018-11-08       Impact factor: 5.157

Review 5.  Novel pregnancy-triggered episodes of CAPOS syndrome.

Authors:  Irene J Chang; Margaret P Adam; Suman Jayadev; Thomas D Bird; Niranjana Natarajan; Ian A Glass
Journal:  Am J Med Genet A       Date:  2017-11-01       Impact factor: 2.802

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

Authors:  Anjali Chouksey; Asish Vijayaraghavan; Sony Mohan; Srija Inturi; A T Prabhakar; Vivek Mathew
Journal:  Mov Disord Clin Pract       Date:  2021-09-10

7.  Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

Authors:  Louis Viollet; Gustavo Glusman; Kelley J Murphy; Tara M Newcomb; Sandra P Reyna; Matthew Sweney; Benjamin Nelson; Frederick Andermann; Eva Andermann; Gyula Acsadi; Richard L Barbano; Candida Brown; Mary E Brunkow; Harry T Chugani; Sarah R Cheyette; Abigail Collins; Suzanne D DeBrosse; David Galas; Jennifer Friedman; Lee Hood; Chad Huff; Lynn B Jorde; Mary D King; Bernie LaSalle; Richard J Leventer; Aga J Lewelt; Mylynda B Massart; Mario R Mérida; Louis J Ptáček; Jared C Roach; Robert S Rust; Francis Renault; Terry D Sanger; Marcio A Sotero de Menezes; Rachel Tennyson; Peter Uldall; Yue Zhang; Mary Zupanc; Winnie Xin; Kenneth Silver; Kathryn J Swoboda
Journal:  PLoS One       Date:  2015-05-21       Impact factor: 3.240

8.  Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.

Authors:  Eleni Panagiotakaki; Elisa De Grandis; Michela Stagnaro; Erin L Heinzen; Carmen Fons; Sanjay Sisodiya; Boukje de Vries; Christophe Goubau; Sarah Weckhuysen; David Kemlink; Ingrid Scheffer; Gaëtan Lesca; Muriel Rabilloud; Amna Klich; Alia Ramirez-Camacho; Adriana Ulate-Campos; Jaume Campistol; Melania Giannotta; Marie-Laure Moutard; Diane Doummar; Cecile Hubsch-Bonneaud; Fatima Jaffer; Helen Cross; Fiorella Gurrieri; Danilo Tiziano; Sona Nevsimalova; Sophie Nicole; Brian Neville; Arn M J M van den Maagdenberg; Mohamad Mikati; David B Goldstein; Rosaria Vavassori; Alexis Arzimanoglou
Journal:  Orphanet J Rare Dis       Date:  2015-09-26       Impact factor: 4.123

9.  Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.

Authors:  Pichet Termsarasab; Amy C Yang; Steven J Frucht
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2015-09-16

10.  Characterization of cognitive deficits in mice with an alternating hemiplegia-linked mutation.

Authors:  Greer S Kirshenbaum; James Dachtler; John C Roder; Steven J Clapcote
Journal:  Behav Neurosci       Date:  2015-10-26       Impact factor: 1.912
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