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

Title
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
Authors
Keywords
whole exome sequencing, genetics, CACNA1A, P/Q-type calcium channel, congenital hypotonia, developmental delay
Journal
PEDIATRIC NEUROLOGY
Volume 55, Issue -, Pages 46-51
Publisher
Elsevier BV
Online
2015-11-07
DOI
10.1016/j.pediatrneurol.2015.10.014

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