Associated Papers
Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant.
Liao Z et al.
Frontiers in Pediatrics, 2022
35911839 (PubMed )
Supplement: Table_1.XLSX › Sheet1
Structure of the human sodium leak channel NALCN in complex with FAM155A.
Xie J et al.
Nature Communications, 2020
33203861 (PubMed )
Supplement: 41467_2020_19667_MOESM1_ESM.pdf
NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.
Bend EG et al.
Neurology, 2016
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Chong JX et al.
American Journal of Human Genetics, 2015
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