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Literature DB >> 30363417

Episodic Ataxia Type 1 (K-channelopathy) Manifesting as Paroxysmal Nonkinesogenic Dyskinesia: Expanding the Phenotype.

Kallol K Set^1,2, Debabrata Ghosh³, A H M Huq^1,2, Aimee F Luat^1,2.

Abstract

http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)2330-1619/homepage/mdc312518-sup-v001.htm.

Entities: Disease Gene

Keywords: EA1; KCNA1 mutation; PNKD; Phenotype; Stiffness of limbs

Year: 2017 PMID： 30363417 PMCID： PMC6174441 DOI： 10.1002/mdc3.12518

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

6 in total

1. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.

Authors: Catherine A Brownstein; Alan H Beggs; Lance Rodan; Jiahai Shi; Meghan C Towne; Renee Pelletier; Siqi Cao; Paul A Rosenberg; David K Urion; Jonathan Picker; Wen-Hann Tan; Pankaj B Agrawal
Journal: Neurogenetics Date: 2015-09-22 Impact factor: 2.660

Review 2. The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.

Authors: Roberto Erro; Kailash P Bhatia; Alberto J Espay; Pasquale Striano
Journal: Mov Disord Date: 2017-01-16 Impact factor: 10.338

3. Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.

Authors: Pawel Tacik; Kimberly J Guthrie; Audrey J Strongosky; Daniel F Broderick; Douglas L Riegert-Johnson; Sha Tang; Dima El-Khechen; Alexander S Parker; Owen A Ross; Zbigniew K Wszolek
Journal: Mayo Clin Proc Date: 2015-02-03 Impact factor: 7.616

Review 4. New insights into the pathogenesis and therapeutics of episodic ataxia type 1.

Authors: Maria Cristina D'Adamo; Sonia Hasan; Luca Guglielmi; Ilenio Servettini; Marta Cenciarini; Luigi Catacuzzeno; Fabio Franciolini
Journal: Front Cell Neurosci Date: 2015-08-19 Impact factor: 5.505

Review 5. Channelopathies.

Authors: June-Bum Kim
Journal: Korean J Pediatr Date: 2014-01-31

Review 6. Episodic Ataxias: Clinical and Genetic Features.

Authors: Kwang-Dong Choi; Jae-Hwan Choi
Journal: J Mov Disord Date: 2016-09-21

6 in total

3 in total