Literature DB >> 23483445

Absence of SLC2A1 mutations does not exclude Glut1 deficiency syndrome.

Joerg Klepper.   

Abstract

Increasingly, the absence of SLC2A1 mutations causes pediatricians to abandon the diagnosis of Glut1 deficiency. For several reasons this is not justified. Potential disease mechanisms in SLC2A1-negative Glut1 deficiency are discussed. Georg Thieme Verlag KG Stuttgart · New York.

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Year:  2013        PMID： 23483445     DOI： 10.1055/s-0033-1336015

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN： 0174-304X            Impact factor:   1.947


  7 in total

1.  Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

Authors:  Michèl A Willemsen; Lisenka Elm Vissers; Marcel M Verbeek; Bregje W van Bon; Sinje Geuer; Christian Gilissen; Joerg Klepper; Michael P Kwint; Wilhelmina G Leen; Maartje Pennings; Ron A Wevers; Joris A Veltman; Erik-Jan Kamsteeg
Journal:  Eur J Hum Genet       Date:  2017-04-05       Impact factor: 4.246

2.  Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood.

Authors:  Anne Roubergue; Bertrand Philibert; Agnès Gautier; Alice Kuster; Karine Markowicz; Thierry Billette de Villemeur; Sandrine Vuillaumier-Barrot; Sophie Nicole; Emmanuel Roze; Diane Doummar
Journal:  JIMD Rep       Date:  2014-02-16

3.  Paroxysmal Nonepileptic Events in Glut1 Deficiency.

Authors:  Joerg Klepper; Baerbel Leiendecker; Christin Eltze; Nicole Heussinger
Journal:  Mov Disord Clin Pract       Date:  2016-07-08

Review 4.  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

5.  Clinical Variability of GLUT1DS.

Authors:  Anastasia Martinez-Esteve Melnikova; Christian M Korff
Journal:  Pediatr Neurol Briefs       Date:  2015-02

6.  Rare and Treatable Cause of Early-Onset Refractory Absence Seizures.

Authors:  Gajanan A Panandikar; Sangeeta H Ravat; Rahil R Ansari; Karan M Desai
Journal:  J Pediatr Neurosci       Date:  2018 Jul-Sep

7.  Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 Cases.

Authors:  Jana Ruiz Herrero; Elvira Cañedo Villarroya; Luis González Gutiérrez-Solana; Beatriz García Alcolea; Begoña Gómez Fernández; Laura Andrea Puerta Macfarland; Consuelo Pedrón-Giner
Journal:  Nutrients       Date:  2021-03-04       Impact factor: 5.717
  7 in total

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