From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing

From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing

Ion channel dysfunction is a key pathological substrate of episodic neurological disorders. A classical gene associated to paroxysmal movement disorders is CACNA1A, which codes for the pore-forming subunit of the neuronal calcium channel P/Q. Non-polyglutamine CACNA1A variants underlie familial hemi...

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Bibliographic Details
Main Authors: Elisabetta Indelicato, Sylvia Boesch
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-03-01
Series:Frontiers in Neurology
Subjects:
CACNA1A
calcium channels
developmental delay
epileptic encephalopathy
dystonia
next generation sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.639994/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2021.639994/full

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