Literature DB >> 31061836

Keeping Glucose Transporter Type 1 Deficiency Syndrome in Mind: A Late Diagnosis and Unusual Neuroimage Findings.

Victoria Ros-Castelló1, Rafael Toledano1, Juan S Martínez-San-Millán2, Araceli Alonso-Canovas1.   

Abstract

Entities:  

Keywords:  GLUT1; SLC2A1; developmental delay; epilepsy; paroxysmal exercise‐induced dyskinesia

Year:  2019        PMID： 31061836      PMCID： PMC6476602          DOI： 10.1002/mdc3.12740

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


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  6 in total

1.  Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.

Authors:  Y G Weber; C Kamm; A Suls; J Kempfle; K Kotschet; R Schüle; T V Wuttke; S Maljevic; J Liebrich; T Gasser; A C Ludolph; W Van Paesschen; L Schöls; P De Jonghe; G Auburger; H Lerche
Journal:  Neurology       Date:  2011-08-10       Impact factor: 9.910

2.  Paroxysmal movement disorders in GLUT1 deficiency syndrome.

Authors:  G Zorzi; B Castellotti; F Zibordi; C Gellera; N Nardocci
Journal:  Neurology       Date:  2008-07-08       Impact factor: 9.910

3.  Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.

Authors:  Dong Wang; Juan M Pascual; Hong Yang; Kristin Engelstad; Sarah Jhung; Ruo Peng Sun; Darryl C De Vivo
Journal:  Ann Neurol       Date:  2005-01       Impact factor: 10.422

Review 4.  GLUT1 deficiency syndrome 2013: current state of the art.

Authors:  Valentina De Giorgis; Pierangelo Veggiotti
Journal:  Seizure       Date:  2013-07-26       Impact factor: 3.184

5.  A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.

Authors:  Domitille Gras; Christelle Cousin; Caroline Kappeler; Cheuk-Wing Fung; Stéphane Auvin; Nouha Essid; Brian Hy Chung; Lydie Da Costa; Elodie Hainque; Marie-Pierre Luton; Vincent Petit; Sandrine Vuillaumier-Barrot; Odile Boespflug-Tanguy; Emmanuel Roze; Fanny Mochel
Journal:  Ann Neurol       Date:  2017-07       Impact factor: 10.422

Review 6.  Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.

Authors:  Roberto Erro; Una-Marie Sheerin; Kailash P Bhatia
Journal:  Mov Disord       Date:  2014-06-25       Impact factor: 10.338
  6 in total
  1 in total

1.  A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review.

Authors:  Miaomiao Yu; Jing Miao; Yudan Lv; Xue Wang; Wuqiong Zhang; Na Shao; Hongmei Meng
Journal:  Front Neurol       Date:  2021-01-28       Impact factor: 4.003
  1 in total

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