Literature DB >> 35146069

Interictal Headache, Pseudodystonia, and Persistent Ataxia in Episodic Ataxia Type 1 Due to a Novel KCNA1 Gene Mutation.

Shakya Bhattacharjee1, Anu Deenadayalu2, Vijayashankar Paramanandam3.   

Abstract

Entities:  

Keywords:  ataxia; episodic; headache; neuromyotonia; pseudodystonia

Year:  2021        PMID： 35146069      PMCID： PMC8810430          DOI： 10.1002/mdc3.13381

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  9 in total

1.  Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.

Authors:  Xiao-Meng Yin; Jing-Han Lin; Li Cao; Tong-Mei Zhang; Sheng Zeng; Kai-Lin Zhang; Wo-Tu Tian; Zheng-Mao Hu; Nan Li; Jun-Ling Wang; Ji-Feng Guo; Ruo-Xi Wang; Kun Xia; Zhuo-Hua Zhang; Fei Yin; Jing Peng; Wei-Ping Liao; Yong-Hong Yi; Jing-Yu Liu; Zhi-Xian Yang; Zhong Chen; Xiao Mao; Xin-Xiang Yan; Hong Jiang; Lu Shen; Sheng-Di Chen; Li-Ming Zhang; Bei-Sha Tang
Journal:  Hum Mol Genet       Date:  2018-02-15       Impact factor: 6.150

Review 2.  Pseudodystonia: A new perspective on an old phenomenon.

Authors:  Rok Berlot; Kailash P Bhatia; Maja Kojović
Journal:  Parkinsonism Relat Disord       Date:  2019-02-19       Impact factor: 4.891

3.  Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1.

Authors:  Ruth Rea; Alexander Spauschus; Louise H Eunson; Michael G Hanna; Dimitri M Kullmann
Journal:  J Physiol       Date:  2002-01-01       Impact factor: 5.182

4.  Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

Authors:  Kameryn M Butler; Cristina da Silva; John J Alexander; Madhuri Hegde; Andrew Escayg
Journal:  Pediatr Neurol       Date:  2017-09-06       Impact factor: 3.372

5.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

Review 6.  Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.

Authors:  Kelsey Paulhus; Lauren Ammerman; Edward Glasscock
Journal:  Int J Mol Sci       Date:  2020-04-17       Impact factor: 5.923

Review 7.  Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.

Authors:  Giacomo Garone; Alessandro Capuano; Lorena Travaglini; Federica Graziola; Fabrizia Stregapede; Ginevra Zanni; Federico Vigevano; Enrico Bertini; Francesco Nicita
Journal:  Int J Mol Sci       Date:  2020-05-20       Impact factor: 5.923

8.  Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders.

Authors:  Haiming Yuan; Huihua Yuan; Qingming Wang; Wanhua Ye; Ruixia Yao; Wanfang Xu; Yanhui Liu
Journal:  Mol Genet Genomic Med       Date:  2020-07-23       Impact factor: 2.183

9.  Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.

Authors:  Antonio Castellano; Aurora Pujol; Edgard Verdura; Carme Fons; Agatha Schlüter; Montserrat Ruiz; Stéphane Fourcade; Carlos Casasnovas
Journal:  J Med Genet       Date:  2019-10-05       Impact factor: 6.318
  9 in total

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