Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene (Q27312402)

26 June 2017

title

Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene (English)

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26 June 2017

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Xiao-Rong Liu

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26 June 2017

Dan Huang

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26 June 2017

Jie Wang

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26 June 2017

Yi-Fan Wang

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26 June 2017

Hui Sun

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26 June 2017

Bin Tang

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26 June 2017

Wen Li

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26 June 2017

Jin-Xing Lai

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26 June 2017

Na He

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26 June 2017

Mei Wu

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26 June 2017

Tao Su

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26 June 2017

Heng Meng

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26 June 2017

Yi-Wu Shi

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26 June 2017

Bing-Mei Li

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26 June 2017

Bei-Sha Tang

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26 June 2017

Wei-Ping Liao

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26 June 2017

language of work or name

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22 March 2016

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26 June 2017

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26 June 2017

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26 June 2017

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26 June 2017

page(s)

e66

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

26 June 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830198

CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy

21 March 2017

1 reference

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A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830198

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830198

PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830198

The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.

28 September 2017

1 reference

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PRRT2: a major cause of infantile epilepsy and other paroxysmal disorders of childhood

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830198

28 September 2017

1 reference

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PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830198

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=4830198

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830198

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=4830198

Nocturnal paroxysmal dystonia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830198

Nocturnal paroxysmal dystonia and nocturnal wandering

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830198

Familial paroxysmal hypnogenic dystonia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830198

Mutations in KCNT1 cause a spectrum of focal epilepsies.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830198

DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830198

PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830198

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830198

Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830198

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830198

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830198

PRRT2 mutations are the major cause of benign familial infantile seizures.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830198

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830198

SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830198

Nocturnal paroxysmal dystonia with short-lasting attacks: three cases with evidence for an epileptic frontal lobe origin of seizures

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830198

Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome?

28 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutational analysis of CHRNB2 and CHRNA2 genes in southern Chinese population with autosomal dominant nocturnal frontal lobe epilepsy

1 reference

12 December 2020

PRRT2 mutations cause hemiplegic migraine

1 reference

12 December 2020

Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP

1 reference

12 December 2020

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesia

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1212/NXG.0000000000000066

Identifiers

DOI

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release_xwpgqndizrg6bltyqekzft3mpu

26 June 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/xwpgqndizrg6bltyqekzft3mpu

24 November 2022

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

5096556

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

5096556

1 reference