Novel variant c.1838A>G, p.(Gln613Arg) in NALCNcauses camptodactyly and cognitive delay-Reference-Cited by-同舟云学术

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Novel variant c.1838A>G, p.(Gln613Arg) in NALCNcauses camptodactyly and cognitive delay

Published:2022-06-27 Issue:4 Volume:31 Page:206-210
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Singh Parshw,Agrawal Neha,Maurya Rajesh Kumar,Moirangthem Amita

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference11 articles.

1. Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.;Al-Sayed;Am J Hum Genet,2013

2. A gain-of-function mutation in NALCN in a child with intellectual disability, ataxia, and arthrogryposis.;Aoyagi;Hum Mutat,2015

3. NALCN channelopathies: distinguishing gain-of-function and loss-of-function mutations.;Bend;Neurology,2016

4. Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties.;Bouasse;Sci Rep,2019

5. Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).;Bramswig;Hum Genet,2018

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