Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder
Background There is increasing evidence that de novo CACNA1D missense mutations
inducing increased Cav1. 3 L-type Ca 2+-channel-function confer a high risk for
neurodevelopmental disorders (autism spectrum disorder with and without neurological and
endocrine symptoms). Electrophysiological studies demonstrating the presence or absence
of typical gain-of-function gating changes could therefore serve as a tool to distinguish likely
disease-causing from non-pathogenic de novo CACNA1D variants in affected individuals …
inducing increased Cav1. 3 L-type Ca 2+-channel-function confer a high risk for
neurodevelopmental disorders (autism spectrum disorder with and without neurological and
endocrine symptoms). Electrophysiological studies demonstrating the presence or absence
of typical gain-of-function gating changes could therefore serve as a tool to distinguish likely
disease-causing from non-pathogenic de novo CACNA1D variants in affected individuals …
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