Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes (Q43663646)

25 November 2017

title

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

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25 November 2017

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Paroxysmal dyskinesia

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X-R Liu

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25 November 2017

M Wu

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25 November 2017

N He

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25 November 2017

H Meng

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25 November 2017

L Wen

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J-L Wang

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M-P Zhang

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W-B Li

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25 November 2017

X Mao

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25 November 2017

J-M Qin

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B-M Li

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B Tang

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Y-H Deng

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Y-W Shi

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T Su

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Y-H Yi

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B-S Tang

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25 November 2017

W-P Liao

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25 November 2017

language of work or name

English

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publication date

21 December 2012

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Genes, Brain and Behavior

25 November 2017

published in

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25 November 2017

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25 November 2017

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25 November 2017

page(s)

234-240

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A method and server for predicting damaging missense mutations

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cites work

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Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria

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Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia

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Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome

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

21 January 2018

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Paroxysmal dyskinesias: clinical features and classification

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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.

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Early-onset absence epilepsy and paroxysmal dyskinesia

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Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion

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Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia

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

21 January 2018

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Paroxysmal kinesigenic choreoathetosis: a report of 26 patients

21 January 2018

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

21 January 2018

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

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Regional and developmental brain expression patterns of SNAP25 splice variants

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From nocturnal paroxysmal dystonia to nocturnal frontal lobe epilepsy

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Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia

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Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor

21 January 2018

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Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes.

21 January 2018

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

21 January 2018

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

21 January 2018

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Familial Infantile Convulsions and Paroxysmal Choreoathetosis: A New Neurological Syndrome Linked to the Pericentromeric Region of Human Chromosome 16

21 January 2018

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Co-occurrence of infantile epileptic seizures and childhood paroxysmal choreoathetosis in one family: clinical, EEG, and SPECT characterization of episodic events

21 January 2018

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Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

21 January 2018

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The structure and function of proline-rich regions in proteins

21 January 2018

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PRRT2 mutations: A major cause of paroxysmal kinesigenic dyskinesia in the European population

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/GBB.12008

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25 November 2017

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