Literature DB >> 30363555

A Case of Progressive Chorea Resulting From GLUT1 Deficiency.

Ichraf Kraoua1, Hanene Benrhouma1, Sandrine Vuillaumier-Barrot1, Hedia Klaa1, Ilhem Ben Youssef-Turki1.   

Abstract

Entities:  

Keywords:  GLUT1; ataxia; chorea

Year:  2015        PMID: 30363555      PMCID: PMC6178750          DOI: 10.1002/mdc3.12191

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


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  11 in total

1.  Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.

Authors:  Mathieu Anheim; Elisabeth Maillart; Sandrine Vuillaumier-Barrot; Constance Flamand-Rouvière; Fanny Pineau; Claire Ewenczyk; Florence Riant; Emmanuelle Apartis; Emmanuel Roze
Journal:  J Neurol       Date:  2010-09-10       Impact factor: 4.849

2.  Sporadic and familial glut1ds Italian patients: A wide clinical variability.

Authors:  Valentina De Giorgis; Federica Teutonico; Cristina Cereda; Umberto Balottin; Marika Bianchi; Lucio Giordano; Sara Olivotto; Francesca Ragona; Anna Tagliabue; Giovanna Zorzi; Nardo Nardocci; Pierangelo Veggiotti
Journal:  Seizure       Date:  2014-11-26       Impact factor: 3.184

3.  Partial effectiveness of acetazolamide in a mild form of GLUT1 deficiency: a pediatric observation.

Authors:  Renaud Chambon; Sandrine Vuillaumier-Barrot; Nathalie Seta; Sabrina Wagner; Catherine Sarret
Journal:  Mov Disord       Date:  2013-05-06       Impact factor: 10.338

Review 4.  GLUT1 deficiency syndrome into adulthood: a follow-up study.

Authors:  W G Leen; M Taher; M M Verbeek; E J Kamsteeg; B P van de Warrenburg; M A Willemsen
Journal:  J Neurol       Date:  2014-01-12       Impact factor: 4.849

5.  Autosomal dominant transmission of GLUT1 deficiency.

Authors:  J Klepper; M Willemsen; A Verrips; E Guertsen; R Herrmann; C Kutzick; A Flörcken; T Voit
Journal:  Hum Mol Genet       Date:  2001-01-01       Impact factor: 6.150

Review 6.  GLUT1 deficiency syndrome in clinical practice.

Authors:  Joerg Klepper
Journal:  Epilepsy Res       Date:  2011-03-05       Impact factor: 3.045

7.  Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Authors:  Wilhelmina G Leen; Joerg Klepper; Marcel M Verbeek; Maike Leferink; Tom Hofste; Baziel G van Engelen; Ron A Wevers; Todd Arthur; Nadia Bahi-Buisson; Diana Ballhausen; Jolita Bekhof; Patrick van Bogaert; Inês Carrilho; Brigitte Chabrol; Michael P Champion; James Coldwell; Peter Clayton; Elizabeth Donner; Athanasios Evangeliou; Friedrich Ebinger; Kevin Farrell; Rob J Forsyth; Christian G E L de Goede; Stephanie Gross; Stephanie Grunewald; Hans Holthausen; Sandeep Jayawant; Katherine Lachlan; Vincent Laugel; Kathy Leppig; Ming J Lim; Grazia Mancini; Adela Della Marina; Loreto Martorell; Joe McMenamin; Marije E C Meuwissen; Helen Mundy; Nils O Nilsson; Axel Panzer; Bwee T Poll-The; Christian Rauscher; Christophe M R Rouselle; Inger Sandvig; Thomas Scheffner; Eamonn Sheridan; Neil Simpson; Parol Sykora; Richard Tomlinson; John Trounce; David Webb; Bernhard Weschke; Hans Scheffer; Michél A Willemsen
Journal:  Brain       Date:  2010-02-02       Impact factor: 13.501

8.  Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.

Authors:  K Brockmann; D Wang; C G Korenke; A von Moers; Y Y Ho; J M Pascual; K Kuang; H Yang; L Ma; P Kranz-Eble; J Fischbarg; F Hanefeld; D C De Vivo
Journal:  Ann Neurol       Date:  2001-10       Impact factor: 10.422

9.  GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.

Authors:  Susanne A Schneider; Coro Paisan-Ruiz; Ines Garcia-Gorostiaga; Niall P Quinn; Yvonne G Weber; Holger Lerche; John Hardy; Kailash P Bhatia
Journal:  Mov Disord       Date:  2009-08-15       Impact factor: 10.338

Review 10.  GLUT1 deficiency syndrome: an update.

Authors:  D Gras; E Roze; S Caillet; A Méneret; D Doummar; T Billette de Villemeur; M Vidailhet; F Mochel
Journal:  Rev Neurol (Paris)       Date:  2013-11-20       Impact factor: 2.607

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