Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders

Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders

Paroxysmal dyskinesias (PxD) are rare movement disorders with characteristic episodes of involuntary mixed hyperkinetic movements. Scientific efforts and technical advances in molecular genetics have led to the discovery of a variety of genes associated with PxD; however, clinical and genetic inform...

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Bibliographic Details
Main Authors: Josua Kegele, Johanna Krüger, Mahmoud Koko, Lara Lange, Ana Victoria Marco Hernandez, Francisco Martinez, Alexander Münchau, Holger Lerche, Stephan Lauxmann
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Neurology
Subjects:
paroxysmal dyskinesia
paroxysmal kinesiogenic dyskinesia
paroxysmal exercise induced dyskinesia
KCNA1
SLC2A1
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.701351/full

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https://www.frontiersin.org/articles/10.3389/fneur.2021.701351/full

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