(Q38080580)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23398397%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

PRRT2 mutations and paroxysmal disorders (English)

1 reference

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23 February 2020

1

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23 February 2020

author name string

C Gaudebout

2

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23 February 2020

F Riant

3

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23 February 2020

M Vidailhet

4

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23 February 2020

C Depienne

5

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23 February 2020

E Roze

6

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23 February 2020

publication date

9 February 2013

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European Journal of Neurology

23 February 2020

published in

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23 February 2020

volume

20

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23 February 2020

issue

6

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23 February 2020

page(s)

872-878

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

23 February 2020

cites work

1 reference

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

21 January 2018

1 reference

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria

21 January 2018

1 reference

Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.

21 January 2018

1 reference

A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16.

21 January 2018

1 reference

Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene

21 January 2018

1 reference

Familial pure paroxysmal kinesigenic dyskinesia in Han population from the Chinese mainland: a new subtype?

21 January 2018

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Paroxysmal kinesigenic dyskinesias

21 January 2018

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Paroxysmal kinesigenic dyskinesias of epileptic origin abolished by temporal lobectomy.

21 January 2018

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Bilateral Striopallidodentate Calcinosis With Paroxysmal Kinesigenic Dyskinesia

21 January 2018

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Infantile convulsions and paroxysmal kinesigenic choreoathetosis in a patient with idiopathic hypoparathyroidism

21 January 2018

1 reference

Ictal (99m)Tc ECD SPECT in paroxysmal kinesigenic choreoathetosis

21 January 2018

1 reference

Increased ictal perfusion of the thalamus in paroxysmal kinesigenic dyskinesia

21 January 2018

1 reference

Perfusion abnormality of the caudate nucleus in patients with paroxysmal kinesigenic choreoathetosis

21 January 2018

1 reference

The thalamic ultrastructural abnormalities in paroxysmal kinesigenic choreoathetosis: a diffusion tensor imaging study

21 January 2018

1 reference

Hyperactive putamen in patients with paroxysmal kinesigenic choreoathetosis: a resting-state functional magnetic resonance imaging study

21 January 2018

1 reference

Paroxysmal kinesigenic dyskinesia: a channelopathy? Study of 19 cases

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort

21 January 2018

1 reference

Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation.

21 January 2018

1 reference

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

21 January 2018

1 reference

Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences.

21 January 2018

1 reference

Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management

21 January 2018

1 reference

Developmental and benign movement disorders in childhood

21 January 2018

1 reference

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

21 January 2018

1 reference

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

1 reference

Listening to silence and understanding nonsense: exonic mutations that affect splicing

21 January 2018

1 reference

Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia

21 January 2018

1 reference

Masters or slaves? Vesicle release machinery and the regulation of presynaptic calcium channels

21 January 2018

1 reference

Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.

21 January 2018

1 reference

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

21 January 2018

1 reference