Literature DB >> 27423591

Progressive ataxia related to PRRT2 gene mutation.

Giovanni Castelnovo1, Dimitri Renard2, Marie De Verdal2, JeanJean Luc3, Eric Thouvenot3, Florence Riant4.   

Abstract

Entities:  

Keywords:  Hereditary ataxia; PRRT2

Mesh：

Substances：

Year:  2016        PMID： 27423591     DOI： 10.1016/j.jns.2016.05.058

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  3 in total

Review 1.  PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

Authors:  Piero Pavone; Giovanni Corsello; Sung Yoon Cho; Xena Giada Pappalardo; Martino Ruggieri; Simona Domenica Marino; Dong Kyu Jin; Silvia Marino; Raffaele Falsaperla
Journal:  Ital J Pediatr       Date:  2019-12-04       Impact factor: 2.638

2.  Galloping tongue syndrome in a PRRT2 mutation carrier.

Authors:  Dolores Vilas; Anna Marcé-Grau; Alfons Macaya; Josep Valls-Solé; Eduard Tolosa
Journal:  Neurol Genet       Date:  2019-11-11

3.  Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy.

Authors:  Li Yang; Cuiping You; Shiyan Qiu; Xiaofan Yang; Yufen Li; Feng Liu; Dongqing Zhang; Yue Niu; Liyun Xu; Na Xu; Xia Li; Fang Luo; Junli Yang; Baomin Li
Journal:  Brain Behav       Date:  2020-03-31       Impact factor: 2.708
  3 in total

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