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

标题
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
作者
关键词
whole exome sequencing, genetics, CACNA1A, P/Q-type calcium channel, congenital hypotonia, developmental delay
出版物
PEDIATRIC NEUROLOGY
Volume 55, Issue -, Pages 46-51
出版商
Elsevier BV
发表日期
2015-11-07
DOI
10.1016/j.pediatrneurol.2015.10.014

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