Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.G259insFs
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PRRT2

NM_145239.3:p.G259insFs

Associated Papers

Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases.

Liu M et al.

Frontiers in Pediatrics, 2022

Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions.

Chen Y et al.

Frontiers of Medicine, 2021

Presynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia.

Calame DJ et al.

Neuroscience, 2020

The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.

Huang XJ et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

Pavone P et al.

Italian Journal of Pediatrics, 2019

PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures.

Zhao G et al.

The International Journal of Neuroscience, 2018

PRRT2 mutations and paroxysmal disorders.

Méneret A et al.

European Journal of Neurology, 2013

Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.

Heron SE et al.

Journal of Medical Genetics, 2013

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

Hedera P et al.

Bmc Neurology, 2012

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