Scientific Publication 

Genetic Variants in the NALCN–UNC80–UNC79 Ion Channel

Author(s): Bertoli-Avella, Aida M., MD, Bramswig, Nuria, Dr.

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Find more information on our website.

NALCN is a conserved cation channel, which conducts a permanent sodium leak current and regulates resting membrane potential and neuronal excitability. It is part of a large ion channel complex, the “NALCN channelosome”, consisting of multiple proteins including UNC80 and UNC79.


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