Forschungsdatenbank PMU-SQQUID

PMU-Autor/inn/en

Abstract

Cav1.3 voltage-gated L-type calcium channels (LTCCs) are part of postsynaptic neuronal signaling networks. They play a key role in brain function, including fear memory and emotional and drug-taking behaviors. A whole-exome sequencing study identified a de novo mutation, p.A749G, in Cav1.3 α1-subunits (CACNA1D), the second main LTCC in the brain, as 1 of 62 high risk-conferring mutations in a cohort of patients with autism and intellectual disability. We screened all published genetic information available from whole-exome sequencing studies and identified a second de novo CACNA1D mutation, p.G407R. Both mutations are present only in the probands and not in their unaffected parents or siblings.

Useful keywords (using NLM MeSH Indexing)

Autism Spectrum Disorder/genetics*

Autism Spectrum Disorder/metabolism

Calcium Channels, L-Type/genetics*

Calcium Channels, L-Type/metabolism*

Databases, Genetic

HEK293 Cells

Humans

Membrane Potentials/genetics

Membrane Potentials/physiology

Mutation, Missense*

Patch-Clamp Techniques

Transfection

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