UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN

NALCN is a voltage-independent cation channel that controls neuronal excitability. NALCN is known to interact with two other proteins, UNC79 and UNC80, which together form an active channel complex in hippocampal neurons. Thus, regulation of the UNC79-UNC80-NALCN channel complex is extremely important for controlling neuronal excitability. Our study presents a novel syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, caused by a nonsense UNC80 mutation. This mutation likely generates a dramatically truncated non-functional UNC80 protein leading to malfunction of the UNC79-UNC80-NALCN active complex, in line with the UNC80 mutation phenotype being similar to that stemming from NALCN null-function mutations. (By Yonatan Perez and Prof. Ohad Birk, http://jmg.bmj.com/content/early/2015/11/05/jmedgenet-2015-103352 )

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From left to right: Yonatan Perez and Prof. Ohad Birk

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