Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant

Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant

BackgroundThe NALCN encodes a sodium ion leak channel that regulates nerve-resting conductance and excitability. NALCN variants are associated with two neurodevelopmental disorders, one is CLIFAHDD (autosomal dominant congenital contractures of the limbs and face, hypotonia, and developmental delay,...

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Bibliographic Details
Main Authors: Zhenyu Liao, Yali Liu, Yimin Wang, Qin Lu, Yu Peng, Qingsong Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-07-01
Series:Frontiers in Pediatrics
Subjects:
NALCN
sodium ion leak channel
CLIFAHDD
neurodevelopmental retardation
de novo mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.927392/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.927392/full

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