Article

A <i>KCNC1</i> Variant Linked to Rett Syndrome Disrupts ER to Golgi Trafficking of Kv3.1 Channel

2024-11-13

Abstract excerpt

Intrinsic neuronal excitability, defined by the balance between input and output signals, is crucial to neural function, and its disruption underlies various neurological diseases. Kv3.1 channels, encoded by KCNC1 , are essential for high-frequency action potential firing. Variants in these channels are associated with several subtypes of epilepsy. We report a patient with developmental regression and epilepsy, m...

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Literature Corpus work: 402275cb-9090-5761-b664-a6ac944bb755
DOI: 10.1101/2024.11.12.623225

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