Literature DB >> 24793181

Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism.

Stefania Fornarino1, Michela Stagnaro1, Martina Rinelli1, Danilo Tiziano1, Margherita M Mancardi1, Maria Traverso1, Edvige Veneselli1, Elisa De Grandis2.   

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Year:  2014        PMID： 24793181     DOI： 10.1212/WNL.0000000000000473

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  5 in total

1.  Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.

Authors:  Tommaso Schirinzi; Federica Graziola; Francesco Nicita; Lorena Travaglini; Fabrizia Stregapede; Massimiliano Valeriani; Paolo Curatolo; Enrico Bertini; Federico Vigevano; Alessandro Capuano
Journal:  Cerebellum       Date:  2018-08       Impact factor: 3.847

2.  A Rare Cause of Recurrent Febrile Encephalopathy in a Child: The Expanding Spectrum of ATP1A3 Mutations.

Authors:  Saja Tahir; Nidheesh Chencheri; Abdalla A Abdalla; Mohamed O E Babiker
Journal:  Cureus       Date:  2021-12-15

3.  Chinese patients with p.Arg756 mutations of ATP1A3: Clinical manifestations, treatment, and follow-up.

Authors:  Weihua Zhang; Jiuwei Li; Xiuwei Zhuo; Ji Zhou; Weixing Feng; Shuai Gong; Xiaotun Ren; Changhong Ding; Tongli Han; Fang Fang
Journal:  Pediatr Investig       Date:  2022-02-25

4.  Molecular and clinical characteristics of ATP1A3-related diseases.

Authors:  Yinchao Li; Xianyue Liu; Chengzhe Wang; Zhengwei Su; Ke Zhao; Man Yang; Shuda Chen; Liemin Zhou
Journal:  Front Neurol       Date:  2022-07-26       Impact factor: 4.086

Review 5.  Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.

Authors:  Mateusz Biela; Malgorzata Rydzanicz; Krystyna Szymanska; Karolina Pieniawska-Smiech; Aleksandra Lewandowicz-Uszynska; Joanna Chruszcz; Lucyna Benben; Malgorzata Kuzior-Plawiak; Pawel Szyld; Aleksandra Jakubiak; Leszek Szenborn; Rafal Ploski; Robert Smigiel
Journal:  Mol Genet Genomic Med       Date:  2021-08-02       Impact factor: 2.183
  5 in total

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