Literature DB >> 31970223

Episodic Ataxia Secondary to CEP290 Compound Heterozygous Mutations: A Case Report.

Moath Hamed1, Aakash Shetty1, Tara Dzwiniel2, Mark Buller3, Lotta Koskinen4, Oksana Suchowersky1,2,5.   

Abstract

Entities:  

Keywords:  Joubert syndrome; episodic ataxia

Year:  2019        PMID： 31970223      PMCID： PMC6962660          DOI： 10.1002/mdc3.12872

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


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  9 in total

1.  A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia.

Authors:  Karine Choquet; Roberta La Piana; Bernard Brais
Journal:  Neurogenetics       Date:  2015-01-08       Impact factor: 2.660

2.  Episodic ataxia associated with a de novo SCN2A mutation.

Authors:  Emma L Leach; Clara D M van Karnebeek; Katelin N Townsend; Maja Tarailo-Graovac; Juliette Hukin; William T Gibson
Journal:  Eur J Paediatr Neurol       Date:  2016-06-14       Impact factor: 3.140

3.  Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.

Authors:  Matthis Synofzik; Julia Schicks; Tobias Lindig; Saskia Biskup; Thorsten Schmidt; Jochen Hansel; Frank Lehmann-Horn; Ludger Schöls
Journal:  J Med Genet       Date:  2011-07-11       Impact factor: 6.318

Review 4.  Primary episodic ataxias: diagnosis, pathogenesis and treatment.

Authors:  J C Jen; T D Graves; E J Hess; M G Hanna; R C Griggs; R W Baloh
Journal:  Brain       Date:  2007-06-15       Impact factor: 13.501

5.  A novel locus for episodic ataxia:UBR4 the likely candidate.

Authors:  Judith Conroy; Paul McGettigan; Raymond Murphy; David Webb; Sinéad M Murphy; Blathnaid McCoy; Christine Albertyn; Dara McCreary; Cara McDonagh; Orla Walsh; Sallyann Lynch; Sean Ennis
Journal:  Eur J Hum Genet       Date:  2013-08-28       Impact factor: 4.246

6.  Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.

Authors:  Thierry Vilboux; Daniel A Doherty; Ian A Glass; Melissa A Parisi; Ian G Phelps; Andrew R Cullinane; Wadih Zein; Brian P Brooks; Theo Heller; Ariane Soldatos; Neal L Oden; Deniz Yildirimli; Meghana Vemulapalli; James C Mullikin; May Christine V Malicdan; William A Gahl; Meral Gunay-Aygun
Journal:  Genet Med       Date:  2017-01-26       Impact factor: 8.822

7.  PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.

Authors:  Alice R Gardiner; Kailash P Bhatia; Maria Stamelou; Russell C Dale; Manju A Kurian; Susanne A Schneider; G M Wali; Tim Counihan; Anthony H Schapira; Sian D Spacey; Enza-Maria Valente; Laura Silveira-Moriyama; Hélio A G Teive; Salmo Raskin; Josemir W Sander; Andrew Lees; Tom Warner; Dimitri M Kullmann; Nicholas W Wood; Michael Hanna; Henry Houlden
Journal:  Neurology       Date:  2012-10-17       Impact factor: 9.910

Review 8.  Episodic Ataxias: Clinical and Genetic Features.

Authors:  Kwang-Dong Choi; Jae-Hwan Choi
Journal:  J Mov Disord       Date:  2016-09-21

Review 9.  Episodic ataxia type 1: a neuronal potassium channelopathy.

Authors:  Sanjeev Rajakulendran; Stephanie Schorge; Dimitri M Kullmann; Michael G Hanna
Journal:  Neurotherapeutics       Date:  2007-04       Impact factor: 7.620
  9 in total
  3 in total

Review 1.  Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.

Authors:  Giacomo Garone; Alessandro Capuano; Lorena Travaglini; Federica Graziola; Fabrizia Stregapede; Ginevra Zanni; Federico Vigevano; Enrico Bertini; Francesco Nicita
Journal:  Int J Mol Sci       Date:  2020-05-20       Impact factor: 5.923

Review 2.  Paroxysmal Movement Disorders.

Authors:  Susan Harvey; Mary D King; Kathleen M Gorman
Journal:  Front Neurol       Date:  2021-06-11       Impact factor: 4.003

Review 3.  Episodic Ataxias: Faux or Real?

Authors:  Paola Giunti; Elide Mantuano; Marina Frontali
Journal:  Int J Mol Sci       Date:  2020-09-05       Impact factor: 5.923
  3 in total

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