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

Derek L. Weyhrauch, Dan Ye, Nicole J. Boczek, David J. Tester, Ralitza H. Gavrilova, Marc C. Patterson, Eric D. Wieben, Michael J. Ackerman

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