Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis.

Human mutation - 1 Aug 2015

Aoyagi Kyota, Rossignol Elsa, Hamdan Fadi F, Mulcahy Ben, Xie Lin, Nagamatsu Shinya, Rouleau Guy A, Zhen Mei, Michaud Jacques L

Abstract excerpt

NALCN and its homologues code for the ion channel responsible for half of background Na(+) -leak conductance in vertebrate and invertebrate neurons. Recessive mutations in human NALCN cause intellectual disability (ID) with hypotonia. Here, we report a de novo heterozygous mutation in NALCN affecting a conserved residue (p.R1181Q) in a girl with ID, episodic and persistent ataxia, and arthrogryposis....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arthrogryposis
Share to Ataxia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Caenorhabditis elegans

Share to Caenorhabditis elegans Proteins

Share to Intellectual Disability

Share to Ion Channels

Share to Membrane Proteins

Share to Sodium Channels

Source

Identifiers

PMID: 25864427
DOI: 10.1002/humu.22797

Genes

NALCN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis.PMID 25864427Read ↗

De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.Semantic proximity Read ↗

NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.Semantic proximity Read ↗

A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.Semantic proximity Read ↗

A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephaly.Semantic proximity Read ↗

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).Semantic proximity Read ↗

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.Semantic proximity Read ↗

Novel pharmacological modulation of dystonic phenotypes caused by a gain-of-function mutation in the Na+ leak-current channel.Semantic proximity Read ↗

<i>C. elegans</i> models of Alternating Hemiplegia of Childhood have dominant neuromuscular junction defectsSemantic proximity Read ↗

A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis.Semantic proximity Read ↗

Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome.Semantic proximity Read ↗

Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2).Semantic proximity Read ↗

Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.