Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. (Q24648494)

22 June 2017

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. (English)

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22 June 2017

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1 reference

4

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Peter De Jonghe

26

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Holger Lerche

10

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Snežana Maljević

20

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Judith Kempfle

7

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Arvid Suls

1

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Dirk Goossens

Dirk Goossens

23

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Philippe Ryvlin

Philippe Ryvlin

17

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Patrick Dupont

Patrick Dupont

5

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Samuel Berkovic

Samuel F Berkovic

14

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Amos D. Korczyn

Amos D Korczyn

13

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Peter Dedeken

Peter Dedeken

2

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David Cassiman

David Cassiman

6

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Koen Van Laere

25

Koen Van Laere

1 reference

22 June 2017

Karolien Goffin

3

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22 June 2017

Thomas V Wuttke

8

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22 June 2017

Yvonne Weber

9

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22 June 2017

Zaid Afawi

11

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22 June 2017

Wim Vandenberghe

12

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22 June 2017

Dana Ekstein

15

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22 June 2017

Sara Kivity

16

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22 June 2017

Lieve R F Claes

18

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22 June 2017

Liesbet Deprez

19

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22 June 2017

Alberto Vargas

21

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22 June 2017

Tine Van Dyck

22

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22 June 2017

Jurgen Del-Favero

24

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22 June 2017

Wim Van Paesschen

27

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22 June 2017

language of work or name

English

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publication date

24 June 2008

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22 June 2017

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22 June 2017

131

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22 June 2017

Pt 7

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22 June 2017

1831-1844

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A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study

22 June 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Sequence and structure of a human glucose transporter

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Defective Glucose Transport across the Blood-Brain Barrier as a Cause of Persistent Hypoglycorrhachia, Seizures, and Developmental Delay

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Faster sequential genetic linkage computations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

GLUT1 deficiency syndrome--2007 update

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

New family with paroxysmal exercise-induced dystonia and epilepsy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

A family with exercise-induced paroxysmal dystonia and childhood absence epilepsy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Seizure Characterization and Electroencephalographic Features in Glut‐1 Deficiency Syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Determination of single-nucleotide polymorphisms by real-time pyrophosphate DNA sequencing

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Exercise induced steroid dependent dystonia, ataxia, and alternating hemiplegia associated with epilepsy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Paroxysmal dyskinesias: clinical features and classification

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Familial paroxysmal dystonia induced by exercise

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

novoSNP, a novel computational tool for sequence variation discovery

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

GLUT‐1 deficiency without epilepsy—an exceptional case

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Imaging the metabolic footprint of Glut1 deficiency on the brain

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Paroxysmal exercise-induced dystonia: eight new sporadic cases and a review of the literature

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Paroxysmal hemidystonia induced by prolonged exercise and cold

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Autosomal dominant glut-1 deficiency syndrome and familial epilepsy

30 May 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN113

Familial occipitotemporal lobe epilepsy and migraine with visual aura: linkage to chromosome 9q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN113

Ictal perfusion patterns associated with single MRI-visible focal dysplastic lesions: implications for the noninvasive delineation of the epileptogenic zone.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN113

Early-onset absence epilepsy and paroxysmal dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN113

Changes in glucose transport and water permeability resulting from the T310I pathogenic mutation in Glut1 are consistent with two transport channels per monomer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN113

Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN113

Autosomal dominant transmission of GLUT1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN113

Changes in perfusion pattern using ECD-SPECT indicate frontal lobe and cerebellar involvement in exercise-induced paroxysmal dystonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN113

Familial paroxysmal exercise-induced dyskinesia and benign epilepsy: a clinical and neurophysiological study of an uncommon disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN113

Multicenter study of paroxysmal dyskinesias in Japan--clinical and pedigree analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN113

Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN113

Rapid assessment of regional cerebral metabolic abnormalities in single subjects with quantitative and nonquantitative [18F]FDG PET: A clinical validation of statistical parametric mapping.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN113

Recombinant versus urinary follicle-stimulating hormone in the low-dose regimen in anovulatory patients with polycystic ovary syndrome: a safer and more effective treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN113

Functional studies of threonine 310 mutations in Glut1: T310I is pathogenic, causing Glut1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN113

Disease-associated Glut1 single amino acid substitute mutations S66F, R126C, and T295M constitute Glut1-deficiency states in vitro.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN113

Metabolic imaging of anterior capsular stimulation in refractory obsessive-compulsive disorder: a key role for the subgenual anterior cingulate and ventral striatum.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Bench meets bedside: a 10-year-old girl and amino acid residue glycine 75 of the facilitative glucose transporter GLUT1.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442425

Familial paroxysmal dystonic choreoathetosis of Mount and Reback and its differentiation from related syndromes

28 November 2018

1 reference

12 December 2020

Typical and atypical forms of paroxysmal choreoathetosis

1 reference

12 December 2020

Paroxysmal movement disorders and epilepsy: links across the channel

1 reference

12 December 2020

Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWN113

1 reference

22 June 2017

0 references

1 reference