The clinical and genetic heterogeneity of paroxysmal dyskinesias (Q26776399)

26 June 2017

9 references

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28 November 2023

The clinical and genetic heterogeneity of paroxysmal dyskinesias (English)

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26 June 2017

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genetic heterogeneity

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25 January 2021

7

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Henry Houlden

16

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Roberto Erro

object named as

Roberto Erro

5

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Dimitri Kullmann

object named as

Dimitri Kullmann

Kailash Phatechand Bhatia

10

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object named as

Kailash P Bhatia

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Maria Stamelou

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Georgia Xiromerisiou

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Alice R Gardiner

1

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Fatima Jaffer

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Russell C Dale

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Robyn Labrum

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Esther Meyer

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Matthew Walker

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Tom Warner

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Paul Jarman

12

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Mike Hanna

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Manju A Kurian

14

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26 June 2017

Henry Houlden

16

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26 June 2017

language of work or name

English

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publication date

23 November 2015

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26 June 2017

1 December 2015

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25 January 2021

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138

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26 June 2017

issue

Pt 12

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26 June 2017

page(s)

3567-3580

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Creative Commons Attribution 4.0 International

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copyright license

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on focus list of Wikimedia project

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copyright status

copyrighted

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ScienceSource

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cites work

Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis

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Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

7 April 2017

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

7 April 2017

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Glucose transporter 1 deficiency in the idiopathic generalized epilepsies

7 April 2017

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Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome

7 April 2017

1 reference

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Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis

7 April 2017

1 reference

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Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability

7 April 2017

1 reference

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Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia

7 April 2017

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

7 April 2017

1 reference

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Migraine pathophysiology: lessons from mouse models and human genetics

7 April 2017

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PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in Paroxysmal Kinesigenic Dyskinesia

28 September 2017

1 reference

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Episodic and electrical nervous system disorders caused by nonchannel genes

28 September 2017

1 reference

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Role of GLUT1 in regulation of reactive oxygen species

28 September 2017

1 reference

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

28 September 2017

1 reference

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PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

28 September 2017

1 reference

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PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4655345

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

28 September 2017

1 reference

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Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.

28 September 2017

1 reference

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Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4655345

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with 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=4655345

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome

28 September 2017

1 reference

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Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4655345

Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies

28 September 2017

1 reference

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28 September 2017

Paroxysmal dyskinesias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4655345

Paroxysmal choreodystonic disorders.

28 September 2017

1 reference

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GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4655345

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

28 September 2017

1 reference

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Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria

28 September 2017

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Familial (idiopathic) paroxysmal dyskinesias: an update

28 September 2017

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The paroxysmal dyskinesias

28 September 2017

1 reference

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Paroxysmal dyskinesias: clinical features and classification

28 September 2017

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An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation.

28 September 2017

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SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome

31 May 2018

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A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development

31 May 2018

1 reference

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Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes

31 May 2018

1 reference

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Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution.

31 May 2018

1 reference

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Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV310

Paroxysmal non-kinesigenic dyskinesia in antiphospholipid syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV310

Paroxysmal non-kinesigenic dyskinesia caused by the mutation of MR-1 in a large Polish kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV310

First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV310

Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV310

Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV310

Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV310

The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV310

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV310

PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV310

The role of SLC2A1 in early onset and childhood absence epilepsies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV310

Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV310

Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV310

PRRT2 is mutated in familial and non-familial benign infantile seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV310

Paroxysmal non-kinesigenic dyskinesia: pathophysiological investigations

21 January 2018

1 reference

12 December 2020

Paroxysmal non-kinesigenic dyskinesia

1 reference

12 December 2020

Paroxysmal dyskinesias in childhood

1 reference

12 December 2020

Paroxysmal kinesigenic choreoathetosis: An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied

1 reference

12 December 2020

Familial paroxysmal dystonia

1 reference

12 December 2020

Genotype-phenotype correlation in a cohort of paroxysmal kinesigenic dyskinesia cases

1 reference

12 December 2020

A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood

1 reference

12 December 2020

Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34

1 reference

12 December 2020

The paroxysmal dyskinesias

1 reference

12 December 2020

Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: report of two Southern European families

1 reference

12 December 2020

Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression

1 reference

12 December 2020

Paroxysmal non-kinesigenic dyskinesia due to spinal cord infiltration of low-grade B cell non-Hodgkin's lymphoma

1 reference

12 December 2020

Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot

1 reference

12 December 2020

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

1 reference

12 December 2020

PRRT2 mutation causes benign familial infantile convulsions

1 reference

12 December 2020

Paroxysmal disorders associated with PRRT2 mutations shake up expectations on ion channel genes

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWV310

1 reference

release_x6sse3zqwfeknor6e675m6lpca

26 June 2017

Fatcat ID

0 references

OpenCitations bibliographic resource ID

4511689

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4511689

1 reference