Abstract

The resting membrane potential (RMP) of neurons and other excitable cells is a fundamental property which underpins all electrical signalling in the body. The predominant depolarising influence on the RMP in neurons is mediated by the Na+ leak channel (NALCN), which requires at least three accessory proteins (UNC79, UNC80, and FAM155A) to form a functional channelosome. Knocking out either NALCN or UNC79 in mice leads to neonatal death, and genetic variation NALCN or UNC80 in human patients leads to severe disease phenotypes including pronounced neurological and developmental defects.

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