A Gain-of-Function Mutation inNALCNin a Child with Intellectual Disability, Ataxia, and Arthrogryposis-Reference-Cited by-同舟云学术

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A Gain-of-Function Mutation inNALCNin a Child with Intellectual Disability, Ataxia, and Arthrogryposis

Published:2015-06-22 Issue:8 Volume:36 Page:753-757
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Aoyagi Kyota¹,Rossignol Elsa²³⁴,Hamdan Fadi F.²,Mulcahy Ben⁵,Xie Lin⁵,Nagamatsu Shinya¹,Rouleau Guy A.⁶,Zhen Mei⁵,Michaud Jacques L.²³⁴

Affiliation:

1. Department of Biochemistry; Kyorin University School of Medicine; Tokyo Japan

2. CHU Sainte-Justine Research Center; Montreal Canada

3. Department of Neurosciences; University of Montreal; Montreal Canada

4. Department of Pediatrics; University of Montreal; Montreal Canada

5. Lunenfeld-Tanenbaum Research Institute and Institute of Medical Science; Department of Molecular Genetics; University of Toronto; Ontario Canada

6. Montreal Neurological Institute; McGill University; Montreal Canada

Funder

Canadian Institute of Health Research

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22797/fullpdf

Reference19 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. Neuromodulation of Na+ channels: an unexpected form of cellular plasticity;Cantrell;Nat Rev Neurosci,2001

3. De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay;Chong;Am J Hum Genet,2015

4. The NCA sodium leak channel is required for persistent motor circuit activity that sustains locomotion;Gao;Nat Commun,2015

5. De novo mutations in moderate or severe intellectual disability;Hamdan;PLoS Genet,2014

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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

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4. Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans;Nature Reviews Genetics;2023-07-25

5. Loss of sodium leak channel (NALCN) in the ventral dentate gyrus impairs neuronal activity of the glutamatergic neurons for inflammation-induced depression in male mice;Brain, Behavior, and Immunity;2023-05

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