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
Published in:Front Neurol
Main Authors: Kegele, Josua, Krüger, Johanna, Koko, Mahmoud, Lange, Lara, Marco Hernandez, Ana Victoria, Martinez, Francisco, Münchau, Alexander, Lerche, Holger, Lauxmann, Stephan
Format: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2021
Subjects:
Neurology
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC8297685/
https://ncbi.nlm.nih.gov/pubmed/34305802
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2021.701351
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