Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
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1. New insights into the physiology and pathophysiology of the atypical sodium leak channel NALCN;Physiological Reviews;2024-01-01
2. A new neurodevelopmental disorder linked to heterozygous variants in UNC79;Genetics in Medicine;2023-09
3. Novel nonsense mutation in UNC80 in a Turkish patient further validates the sociable skill and severe gastrointestinal problems as part of disease spectrum;American Journal of Medical Genetics Part A;2023-04-17
4. Structure and mechanism of NALCN-FAM155A-UNC79-UNC80 channel complex;Nature Communications;2022-05-12
5. Architecture of the human NALCN channelosome;Cell Discovery;2022-04-06
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