Literature DB >> 35146065

Paroxysmal Non-Kinesigenic Dyskinesia: Utility of the Quantification of GLUT1 in Red Blood Cells.

Luca Soliani1,2, Loreto Martorell3,4, Delia Yubero3, Carla Verges5, Vincent Petit6, Juan Darío Ortigoza-Escobar7,8.   

Abstract

Entities:  

Keywords:  GLUT1; SLC2A1; paroxysmal dyskinesia

Year:  2021        PMID： 35146065      PMCID： PMC8810440          DOI： 10.1002/mdc3.13391

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


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  8 in total

1.  Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay.

Authors:  D C De Vivo; R R Trifiletti; R I Jacobson; G M Ronen; R A Behmand; S I Harik
Journal:  N Engl J Med       Date:  1991-09-05       Impact factor: 91.245

Review 2.  Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).

Authors:  Toni S Pearson; Cigdem Akman; Veronica J Hinton; Kristin Engelstad; Darryl C De Vivo
Journal:  Curr Neurol Neurosci Rep       Date:  2013-04       Impact factor: 5.081

3.  The spectrum of movement disorders in Glut-1 deficiency.

Authors:  Roser Pons; Abbie Collins; Michael Rotstein; Kristin Engelstad; Darryl C De Vivo
Journal:  Mov Disord       Date:  2010-02-15       Impact factor: 10.338

4.  Unravelling of the paroxysmal dyskinesias.

Authors:  Roberto Erro; Kailash P Bhatia
Journal:  J Neurol Neurosurg Psychiatry       Date:  2018-09-21       Impact factor: 10.154

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

6.  Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.

Authors:  Joseph D Symonds; Sameer M Zuberi; Kirsty Stewart; Ailsa McLellan; Mary O'Regan; Stewart MacLeod; Alice Jollands; Shelagh Joss; Martin Kirkpatrick; Andreas Brunklaus; Daniela T Pilz; Jay Shetty; Liam Dorris; Ishaq Abu-Arafeh; Jamie Andrew; Philip Brink; Mary Callaghan; Jamie Cruden; Louise A Diver; Christine Findlay; Sarah Gardiner; Rosemary Grattan; Bethan Lang; Jane MacDonnell; Jean McKnight; Calum A Morrison; Lesley Nairn; Meghan M Slean; Elma Stephen; Alan Webb; Angela Vincent; Margaret Wilson
Journal:  Brain       Date:  2019-08-01       Impact factor: 13.501
  8 in total
  1 in total

Review 1.  One Molecule for Mental Nourishment and More: Glucose Transporter Type 1-Biology and Deficiency Syndrome.

Authors:  Romana Vulturar; Adina Chiș; Sebastian Pintilie; Ilinca Maria Farcaș; Alina Botezatu; Cristian Cezar Login; Adela-Viviana Sitar-Taut; Olga Hilda Orasan; Adina Stan; Cecilia Lazea; Camelia Al-Khzouz; Monica Mager; Mihaela Adela Vințan; Simona Manole; Laura Damian
Journal:  Biomedicines       Date:  2022-05-26
  1 in total

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