Associated Papers
Clinical and genetic characterization of CACNA1A-related disease.
Lipman AR et al.
Clinical Genetics, 2022
Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay.
Weyhrauch DL et al.
Pediatric Neurology, 2016
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