Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature

Calcium channels are an integral component in maintaining cellular function. Alterations may lead to channelopathies, primarily manifested in the central nervous system. This study describes the clinical and genetic features of a unique 12-year-old boy harboring two congenital calcium channelopathie...

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Detalles Bibliográficos
Autores principales: Schaare, Donna, Sarasua, Sara M., Lusk, Laina, Parthasarathy, Shridhar, Wang, Liangjiang, Helbig, Ingo, Boccuto, Luigi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956337/
https://www.ncbi.nlm.nih.gov/pubmed/36833327
http://dx.doi.org/10.3390/genes14020400

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956337/
https://www.ncbi.nlm.nih.gov/pubmed/36833327
http://dx.doi.org/10.3390/genes14020400

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