Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. (Q35906678)

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9 February 2020

title

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions (English)

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15 December 2011

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Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia

9 February 2020

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11 July 2018

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11 July 2018

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11 July 2018

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

11 July 2018

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Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria

11 July 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

11 July 2018

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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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11 July 2018

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11 July 2018

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Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.

11 July 2018

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11 July 2018

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Paroxysmal dyskinesias: clinical features and classification

11 July 2018

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24 September 2018

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24 September 2018

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24 September 2018

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12 December 2020

Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families

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12 December 2020

Refinement of the chromosome 16 locus for benign familial infantile convulsions

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12 December 2020

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Identifiers

DOI

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9 February 2020

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9 February 2020

PubMed publication ID

22832103

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