Congratulations to everyone involved in this amazing project!

Thanks so much for contributing to this!!

A huge thank you to everyone involved and of course @lundbeckfonden.bsky.social, @carlsbergfondet.dk and DFF for funding.

Collaborator @amelierocks.bsky.social complemented this with predictions of protein stability and conservation scores. In combination with functional work this establishes a framework for classifying suspected disease variants, which we hope will aid assessment of NALCN variant pathogenicity

@chowhanchua.bsky.social implemented use of a combination of multiple parameters derived from two-electrode voltage-clamp electrophysiology recordings. These allow us to classify LoF and GoF phenotypes and to provide mechanistic insight into the molecular mechanism underlying specific variants.

De novo and inherited NALCN variants can lead to severe developmental syndromes. Although variants of uncertain significance or presumed pathogenic variants have been studied in heterologous systems before, there is no generally accepted framework on how to assess or predict variant pathogenicity.

Great to see so much exciting ion channel/membrane protein work going on in the far North!

Congratulations to you and the team - amazing work!

Thank you, Yamuna

We are very grateful to the many contributors, incl our fantastic collaborators in the Lundby, Wellendorph & Schramek groups. Special thanks to Nadine Ritter for her copious patch-clamp contributions.
This collaborative effort funded from the @lundbeckfonden.bsky.social and DFF.