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Article

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.

Science translational medicine - 12 Aug 2020

Heyne Henrike O, Baez-Nieto David, Iqbal Sumaiya, Palmer Duncan S, Brunklaus Andreas, May Patrick, Johannesen Katrine M, Lauxmann Stephan, Lemke Johannes R, Møller Rikke S, Pérez-Palma Eduardo, Scholl Ute I, Syrbe Steffen, Lerche Holger, Lal Dennis, Campbell Arthur J, Wang Hao-Ran, Pan Jen, Daly Mark J

Abstract excerpt

Malfunctions of voltage-gated sodium and calcium channels (encoded by SCNxA and CACNA1x family genes, respectively) have been associated with severe neurologic, psychiatric, cardiac, and other diseases. Altered channel activity is frequently grouped into gain or loss of ion channel function (GOF or LOF, respectively) that often corresponds not only to clinical disease manifestations but also to differences in...

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Identifiers

PMID: 32801145
DOI: 10.1126/scitranslmed.aay6848

Genes

CACNA1I

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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