Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties

The excitability of neurons is tightly dependent on their ion channel repertoire. Among these channels, the leak sodium channel NALCN plays a crucial role in the maintenance of the resting membrane potential. Importantly, NALCN mutations lead to complex neurodevelopmental syndromes, including infant...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Sci Rep
Prif Awduron: Bouasse, Malik, Impheng, Hathaichanok, Servant, Zoe, Lory, Philippe, Monteil, Arnaud
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group UK 2019
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6692409/
https://ncbi.nlm.nih.gov/pubmed/31409833
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-48071-x
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