Article

<i>In vivo</i> characterization of a patient <i>CACNA1A</i> variant reveals paradoxical synaptic effects

2026-04-29

Abstract excerpt

Channelopathies are a class of neurodevelopmental disorders with often devastating consequences, and effective therapies depend on understanding how patient variants alter channel function. These effects are typically assessed by biophysical characterization in heterologous expression systems. Mutations in CACNA1A, which encodes the P/Q-type calcium channel CaV2.1, underlie a spectrum of neurological disorders in...

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Literature Corpus work: 82a2c266-5191-58ac-bebb-a9fe1f9df31a
DOI: 10.64898/2026.04.27.721138

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