A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.

A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.

P/Q-type channels are the principal presynaptic calcium channels in brain functioning in neurotransmitter release. They are composed of the pore-forming CaV2.1 α1 subunit and the auxiliary α2δ-2 and β4 subunits. β4 is encoded by CACNB4, and its multiple splice variants serve isoform-specific functio...

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Bibliographic Details
Main Authors: Pierre Coste de Bagneaux, Leonie von Elsner, Tatjana Bierhals, Marta Campiglio, Jessika Johannsen, Gerald J Obermair, Maja Hempel, Bernhard E Flucher, Kerstin Kutsche
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2020-03-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1008625

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https://doi.org/10.1371/journal.pgen.1008625

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