Concomitant Calcium Channelopathies Involving <i>CACNA1A</i> and <i>CACNA1F:</i> 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...

Full description

Bibliographic Details
Main Authors: Donna Schaare, Sara M. Sarasua, Laina Lusk, Shridhar Parthasarathy, Liangjiang Wang, Ingo Helbig, Luigi Boccuto
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:Genes
Subjects:
Online Access:https://www.mdpi.com/2073-4425/14/2/400