Article

Structural mapping of patient-associated <i>KCNMA1</i> gene variants

2023-07-28

Abstract excerpt

KCNMA1 -linked channelopathy is a neurological disorder characterized by seizures, motor abnormalities, and neurodevelopmental disabilities. The disease mechanisms are predicted to result from alterations in KCNMA1 -encoded BK K + channel activity; however, only a subset of the patient-associated variants have been functionally studied. The localization of these variants within the tertiary structure or evaluati...

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Identifiers and source

Literature Corpus work: 7024954a-32fc-5b3c-b71c-4ddc7f0c97f2
DOI: 10.1101/2023.07.27.550850

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