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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Detalles Bibliográficos
Autores principales: Indelicato, Elisabetta, Boesch, Sylvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7960780/
https://www.ncbi.nlm.nih.gov/pubmed/33737904
http://dx.doi.org/10.3389/fneur.2021.639994

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7960780/
https://www.ncbi.nlm.nih.gov/pubmed/33737904
http://dx.doi.org/10.3389/fneur.2021.639994

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